ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
9-33385005-A-C	ENST00000297988	p.Ter343GluextTer?	Stop Lost	0	0	0	rs766813164
9-33385012-C-T	ENST00000297988	p.Glu340Glu	Synonymous Variant	0	0	0	rs759960026
9-33385014-C-G	ENST00000297988	p.Glu340Gln	Missense Variant	0	0	0	rs1299353226
9-33385015-T-C	ENST00000297988	p.Leu339Leu	Synonymous Variant	0	0	0	rs149110103
9-33385016-A-G	ENST00000297988	p.Leu339Pro	Missense Variant	0	0	0	rs1229416384
9-33385019-G-A	ENST00000297988	p.Ala338Val	Missense Variant	0	0	0	rs368432936
9-33385020-C-CCATG	ENST00000297988	p.Ala338HisfsTer13	Frameshift Variant	0	0	0	rs767736435	lc_lof
9-33385031-T-C	ENST00000297988	p.His334Arg	Missense Variant	0	0	0	rs1205026401
9-33385037-G-A	ENST00000297988	p.Pro332Leu	Missense Variant	0	0	0	rs758660571
9-33385037-G-T	ENST00000297988	p.Pro332His	Missense Variant	0	0	0	rs758660571
9-33385040-G-A	ENST00000297988	p.Pro331Leu	Missense Variant	0	0	0	rs199871527
9-33385040-G-C	ENST00000297988	p.Pro331Arg	Missense Variant	0	0	0	rs199871527
9-33385041-G-A	ENST00000297988	p.Pro331Ser	Missense Variant	0	0	0	rs1192417714
9-33385043-G-T	ENST00000297988	p.Ala330Asp	Missense Variant	0	0	0	rs1264739226
9-33385045-A-G	ENST00000297988	p.Pro329Pro	Synonymous Variant	0	0	0	rs1453356199
9-33385046-G-C	ENST00000297988	p.Pro329Arg	Missense Variant	0	0	0	rs1168854859
9-33385047-G-A	ENST00000297988	p.Pro329Ser	Missense Variant	4	30676	0.00013	rs78431873		RF
9-33385049-T-G	ENST00000297988	p.His328Pro	Missense Variant	0	0	0
9-33385054-T-C	ENST00000297988	p.Ser326Ser	Synonymous Variant	0	0	0	rs780994832
9-33385055-G-A	ENST00000297988	p.Ser326Leu	Missense Variant	0	0	0	rs745882902

Showing 1 to 20 of 462 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
AQP7	O14520	Phosphorylation	18	S18-p	TRGSKMVsWsVIAKI	37.23	25283054
AQP7	O14520	Phosphorylation	20	S20-p	GSKMVsWsVIAKIQE	37.23	25283056
AQP7	O14520	Phosphorylation	306	S306-p	TVLPKMGsHEPTISP	37.23	23082988

Showing 1 to 3 of 3 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
AQP7	ENST00000297988	CN-AML-CR-27-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25194720	c.268+85G>C	p.?	Unknown	NEUTRAL	.00424	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	CN-AML-CR-27-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25200223	c.406+15C>T	p.?	Unknown	NEUTRAL	.00517	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	CPCG0183-F1	prostate	carcinoma	25192876	c.700C>A	p.R234S	Substitution - Missense		.64957	Confirmed somatic variant	PMID: N/A	NS	234
AQP7	ENST00000297988	CN-AML-CR-17-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25198319	c.744-164G>C	p.?	Unknown	NEUTRAL	.0002	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	PD3989a	breast	carcinoma	25198759	c.-25-536C>T	p.?	Unknown	NEUTRAL	.02886	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	PT22_1	skin	carcinoma	25193063	c.343T>C	p.Y115H	Substitution - Missense	PATHOGENIC	.98095	Confirmed somatic variant	PMID: 25759019	NS	115
AQP7	ENST00000297988	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25194137	c.-102G>A	p.?	Unknown	NEUTRAL	.00873	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25194118	c.-25-372G>A	p.?	Unknown	NEUTRAL	.00049	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25194141	c.-116C>A	p.?	Unknown	NEUTRAL	.02391	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	25194129	c.-26+511G>T	p.?	Unknown	NEUTRAL	.06171	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	166-07-01TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	25197458	c.145-960T>C	p.?	Unknown	NEUTRAL	.00066	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	SCLC2_P_LN	lung	carcinoma	25196874	c.230G>T	p.G77V	Substitution - Missense	PATHOGENIC	.90857	Confirmed somatic variant	PMID: 30224629	metastasis	77
AQP7	ENST00000297988	PCSI_0230_Pa_P_526	pancreas	carcinoma	25194819	c.144+2723G>T	p.?	Unknown	NEUTRAL	.00028	Confirmed somatic variant	PMID: N/A	primary	0
AQP7	ENST00000297988	CAL33	upper_aerodigestive_tract	carcinoma	25193124	c.27-23A>C	p.?	Unknown	NEUTRAL	.06157	Reported in another cancer sample as somatic	PMID: 25275298	NS	0
AQP7	ENST00000297988	RK101_C01	liver	carcinoma	25202895	c.144+1147A>T	p.?	Unknown	NEUTRAL	.00693	Confirmed somatic variant	PMID: N/A	NS	0
AQP7	ENST00000297988	TCGA-23-1120-01	ovary	carcinoma	25194588	c.246G>C	p.V82=	Substitution - coding silent	NEUTRAL	.04208	Confirmed somatic variant	PMID: 21720365	primary	82
AQP7	ENST00000297988	NPC34F	upper_aerodigestive_tract	carcinoma	25192898	c.692T>C	p.L231P	Substitution - Missense	PATHOGENIC	.98335	Confirmed somatic variant	PMID: 24952746	primary	231
AQP7	ENST00000297988	CAL33	upper_aerodigestive_tract	carcinoma	25192828	c.797A>C	p.Y266S	Substitution - Missense	NEUTRAL	.04211	Reported in another cancer sample as somatic	PMID: 25275298	NS	266
AQP7	ENST00000297988	RK079_C01	liver	carcinoma	25196253	c.144+3305C>T	p.?	Unknown	NEUTRAL	.09158	Reported in another cancer sample as somatic	PMID: N/A	primary	0
AQP7	ENST00000297988	CAL33	upper_aerodigestive_tract	carcinoma	25193101	c.188A>C	p.K63T	Substitution - Missense	NEUTRAL	.02244	Reported in another cancer sample as somatic	PMID: 25275298	NS	63

Showing 1 to 20 of 570 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00230	MIP	Major intrinsic protein	27-272			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.762	0.241
Obesity	Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ;	0.762	0.241
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.762	0.241
NO RESULT FOUND

Description:	aquaporin 7 [Source:ZFIN;Acc:ZDB-GENE-030131-6461]
Synonyms:	aqp7l, aqpap, aqp9
Other ID(s):	XB-GENE-484060
Protein Accession Numbers:	NP_001015726
Statistics:	ClinVar(12) gnomAD(462) COSMIC(570) PTM(3)

Classification of Clinicial Significance of ClinVar Data