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

Inframe Insertion

Missense Variant

Protein Altering Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
1-225685480-T-C	ENST00000366843	p.Ala570Ala	Synonymous Variant	0	0	0	rs750907710
1-225685482-C-T	ENST00000366843	p.Ala570Thr	Missense Variant	116	31390	0.003695	rs114476062
1-225685484-G-A	ENST00000366843	p.Thr569Ile	Missense Variant	1	31400	0.000032	rs780312334
1-225685485-T-C	ENST00000366843	p.Thr569Ala	Missense Variant	1	31398	0.000032	rs1432116065
1-225685488-T-C	ENST00000366843	p.Asn568Asp	Missense Variant	0	0	0	rs1270230246
1-225685490-G-C	ENST00000366843	p.Ser567Ter	Stop Gained	0	0	0	rs754041444	lc_lof
1-225685491-A-T	ENST00000366843	p.Ser567Thr	Missense Variant	0	0	0	rs755240008
1-225685498-C-G	ENST00000366843	p.Leu564Leu	Synonymous Variant	0	0	0	rs1225697856
1-225685507-C-T	ENST00000366843	p.Arg561Arg	Synonymous Variant	0	0	0	rs1273514606
1-225685510-G-A	ENST00000366843	p.Ile560Ile	Synonymous Variant	0	0	0	rs778930669
1-225685513-T-G	ENST00000366843	p.Ala559Ala	Splice Region Variant	0	0	0	rs748289277
1-225686051-T-A	ENST00000366843	p.Asp558Val	Missense Variant	0	0	0	rs113170551
1-225686056-G-T	ENST00000366843	p.Leu556Leu	Synonymous Variant	0	0	0	rs755184907
1-225686059-C-T	ENST00000366843	p.Glu555Glu	Synonymous Variant	1	31404	0.000032	rs1410468629
1-225686068-T-G	ENST00000366843	p.Leu552Leu	Synonymous Variant	33	31408	0.001051	rs144474730
1-225686075-G-A	ENST00000366843	p.Thr550Ile	Missense Variant	0	0	0	rs1319229014
1-225686075-G-C	ENST00000366843	p.Thr550Arg	Missense Variant	0	0	0	rs1319229014
1-225686079-A-G	ENST00000366843	p.Leu549Leu	Synonymous Variant	1	31390	0.000032	rs1198627432
1-225686082-C-T	ENST00000366843	p.Glu548Lys	Missense Variant	0	0	0	rs1394623383
1-225686086-T-C	ENST00000366843	p.Arg546Arg	Synonymous Variant	0	0	0	rs752923848

Showing 1 to 20 of 452 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
ENAH_ENST00000366843	ENST00000366843	EOPC-064_tumor_01	prostate	carcinoma	35386594	c.349+2165C>G	p.?	Unknown	NEUTRAL	.017	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	PD13760a	breast	carcinoma	35382823	c.435-495C>G	p.?	Unknown	NEUTRAL	.00607	Confirmed somatic variant	PMID: N/A	NS	0
ENAH_ENST00000366843	ENST00000366843	YUZINO	skin	malignant_melanoma	35386074	c.412G>A	p.E138K	Substitution - Missense	PATHOGENIC	.89508	Confirmed somatic variant	PMID: 22842228	metastasis	138
ENAH_ENST00000366843	ENST00000366843	CPCG0527-F1	prostate	carcinoma	35386495	c.349+3011dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	TCGA-DV-5574-01	kidney	carcinoma	35381099	c.651G>T	p.E217D	Substitution - Missense	NEUTRAL	.34497	Confirmed somatic variant	PMID: N/A	NS	217
ENAH_ENST00000366843	ENST00000366843	SJG-018	upper_aerodigestive_tract	carcinoma	35380963	c.45T>C	p.V15=	Substitution - coding silent	PATHOGENIC	.72415	Confirmed somatic variant	PMID: 27693639	primary	15
ENAH_ENST00000366843	ENST00000366843	YUZINO	skin	malignant_melanoma	35386069	c.1124C>T	p.S375F	Substitution - Missense	PATHOGENIC	.97284	Confirmed somatic variant	PMID: 22842228	metastasis	375
ENAH_ENST00000366843	ENST00000366843	RK054_C01	liver	carcinoma	35380348	c.434+4198A>C	p.?	Unknown	NEUTRAL	.002	Variant of unknown origin	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	TCGA-QK-A6VB-01	upper_aerodigestive_tract	carcinoma	35386876	c.1010C>A	p.P337H	Substitution - Missense	PATHOGENIC	.9823	Confirmed somatic variant	PMID: N/A	primary	337
ENAH_ENST00000366843	ENST00000366843	PD11384a	breast	carcinoma	35386056	c.5+3289A>C	p.?	Unknown	NEUTRAL	.01655	Confirmed somatic variant	PMID: N/A	NS	0
ENAH_ENST00000366843	ENST00000366843	RK234_C01	liver	carcinoma	35382204	c.6-11666A>C	p.?	Unknown	NEUTRAL	.03601	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	35382738	c.349+5335T>A	p.?	Unknown	NEUTRAL	.06504	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	SJG-018	upper_aerodigestive_tract	carcinoma	35380955	c.93A>G	p.G31=	Substitution - coding silent	NEUTRAL	.48515	Confirmed somatic variant	PMID: 27693639	primary	31
ENAH_ENST00000366843	ENST00000366843	TCGA-DU-8161-01	central_nervous_system	glioma	35383981	c.740G>A	p.R247Q	Substitution - Missense	NEUTRAL	.44835	Confirmed somatic variant	PMID: N/A	NS	247
ENAH_ENST00000366843	ENST00000366843	2834136	skin	malignant_melanoma	35382862	c.1193G>T	p.G398V	Substitution - Missense	PATHOGENIC	.98415	Variant of unknown origin	PMID: 28296713	primary	398
ENAH_ENST00000366843	ENST00000366843	LP6007414-DNA_A02	oesophagus	carcinoma	35382209	c.5+13864T>A	p.?	Unknown	NEUTRAL	.20417	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	PD6721a	breast	carcinoma	35382114	c.5+30088A>G	p.?	Unknown	NEUTRAL	.00289	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	PD3989a	breast	carcinoma	35383502	c.1219-674G>A	p.?	Unknown	NEUTRAL	.029	Confirmed somatic variant	PMID: N/A	primary	0
ENAH_ENST00000366843	ENST00000366843	8066067	pancreas	carcinoma	35382533	c.172-28G>A	p.?	Unknown	NEUTRAL	.45239	Confirmed somatic variant	PMID: N/A	NS	0
ENAH_ENST00000366843	ENST00000366843	T_CCA_SG_15	biliary_tract	carcinoma	35380503	c.349+6740del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 503 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.773	0.172
Acute Myeloid Leukemia, M1	Neoplasms ;	0.773	0.172
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.773	0.172
NO RESULT FOUND

Description:	ENAH, actin regulator [Source:HGNC Symbol;Acc:HGNC:18271]
Synonyms:	ENA, NDPP1, MENA
Other ID(s):	ENSG00000154380, HGNC:18271
Protein Accession Numbers:	ENST00000366843, NP_001364412, NP_001008493, ENST00000284563, NP_001364411, ENST00000366844, NP_060682, NP_001364410
Statistics:	ClinVar(2) gnomAD(452) COSMIC(503)

Classification of Clinicial Significance of ClinVar Data