ConVarT

ClinVar Data

Show entries

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

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
19-18284655-A-T	ENST00000407280	p.Thr2Ser	Missense Variant	3	31366	0.000096	rs369358763
19-18284656-C-T	ENST00000407280	p.Thr2Ile	Missense Variant	0	0	0	rs1345873153
19-18284657-C-G	ENST00000407280	p.Thr2Thr	Synonymous Variant	0	0	0	rs1001978587
19-18284660-G-A	ENST00000407280	p.Leu3Leu	Synonymous Variant	0	0	0	rs1272753870
19-18284663-G-A	ENST00000407280	p.Ser4Ser	Synonymous Variant	0	0	0	rs1481925140
19-18284664-C-T	ENST00000407280	p.Pro5Ser	Missense Variant	0	0	0	rs1207012417
19-18284665-C-T	ENST00000407280	p.Pro5Leu	Missense Variant	0	0	0	rs1252328248
19-18284672-G-A	ENST00000407280	p.Leu7Leu	Synonymous Variant	0	0	0	rs1055793899
19-18284673-C-T	ENST00000407280	p.Leu8Leu	Synonymous Variant	0	0	0	rs1196744267
19-18284680-T-C	ENST00000407280	p.Leu10Pro	Missense Variant	0	0	0	rs1378806319
19-18284681-G-A	ENST00000407280	p.Leu10Leu	Synonymous Variant	0	0	0	rs766452229
19-18284686-C-CGCT	ENST00000407280	p.Leu17dup	Inframe Insertion	1	31002	0.000032	rs1158174387
19-18284686-C-G	ENST00000407280	p.Pro12Arg	Missense Variant	0	0	0	rs1158174387
19-18284686-CGCT-C	ENST00000407280	p.Leu17del	Inframe Deletion	0	31002	0	rs1158174387		AC0,RF
19-18284686-CGCTGCT-C	ENST00000407280	p.Leu16_Leu17del	Inframe Deletion	0	0	0	rs1158174387
19-18284687-G-A	ENST00000407280	p.Pro12Pro	Synonymous Variant	0	0	0	rs373433112
19-18284695-T-C	ENST00000407280	p.Leu15Pro	Missense Variant	0	0	0	rs1368337911
19-18284698-TGCTG-T	ENST00000407280	p.Leu17ThrfsTer15	Frameshift Variant	0	0	0	rs1431303102	lof_flag
19-18284701-TG-T	ENST00000407280	p.Asp18ThrfsTer15	Frameshift Variant	7	31402	0.000223	rs764788458	lof_flag
19-18284703-G-C	ENST00000407280	p.Asp18His	Missense Variant	1	31378	0.000032	rs1399970900

Showing 1 to 20 of 287 entries

Previous1 2 3 4 5…15Next

Post-translational Modifications (PTMs)

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
IFI30	P13284	Phosphorylation	45	T45-p	GPPVNYKtGNLYLRG	27.96	2525574

Showing 1 to 1 of 1 entries

Previous1Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

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
IFI30	ENST00000407280	S0045	large_intestine	other	50119325	c.465G>C	p.M155I	Substitution - Missense		.59813	Confirmed somatic variant	PMID: 27245685	metastasis	155
IFI30	ENST00000407280	TCGA-BR-8373-01	stomach	carcinoma	50118960	c.202T>A	p.Y68N	Substitution - Missense	PATHOGENIC	.9627	Confirmed somatic variant	PMID: N/A	NS	68
IFI30	ENST00000407280	TCGA-AR-A256-01	breast	carcinoma	50118799	c.453G>C	p.E151D	Substitution - Missense	NEUTRAL	.31148	Confirmed somatic variant	PMID: N/A	primary	151
IFI30	ENST00000407280	SCLC2_P_LN	lung	carcinoma	50118836	c.419A>T	p.E140V	Substitution - Missense	NEUTRAL	.06782	Confirmed somatic variant	PMID: 30224629	metastasis	140
IFI30	ENST00000407280	8034061	pancreas	carcinoma	50119171	c.242G>T	p.R81L	Substitution - Missense	NEUTRAL	.12724	Confirmed somatic variant	PMID: N/A	NS	81
IFI30	ENST00000407280	TCGA-2Z-A9J5-01	kidney	carcinoma	50119176	c.455T>C	p.F152S	Substitution - Missense	NEUTRAL	.08655	Confirmed somatic variant	PMID: N/A	primary	152
IFI30	ENST00000407280	PCSI_0142_Pa_P_526	pancreas	carcinoma	50119778	c.133-526A>G	p.?	Unknown	NEUTRAL	.0016	Confirmed somatic variant	PMID: N/A	primary	0
IFI30	ENST00000407280	DA14045	endometrium	carcinoma	50118966	c.483+174C>T	p.?	Unknown	NEUTRAL	.00153	Confirmed somatic variant	PMID: N/A	primary	0
IFI30	ENST00000407280	BN03T	liver	carcinoma	50119268	c.6C>A	p.T2=	Substitution - coding silent	NEUTRAL	.15842	Reported in another cancer sample as somatic	PMID: N/A	primary	2
IFI30	ENST00000407280	TCGA-AZ-4315-01	large_intestine	carcinoma	50119341	c.671T>G	p.L224R	Substitution - Missense	NEUTRAL	.15548	Confirmed somatic variant	PMID: N/A	NS	224
IFI30	ENST00000407280	2014_Lung_sq_35_T	lung	carcinoma	50118880	c.483+39T>A	p.?	Unknown	NEUTRAL	.003	Confirmed somatic variant	PMID: N/A	primary	0
IFI30	ENST00000407280	TCGA-B9-A44B-01	kidney	carcinoma	50118993	c.549C>T	p.R183=	Substitution - coding silent	NEUTRAL	.04719	Confirmed somatic variant	PMID: N/A	NS	183
IFI30	ENST00000407280	TCGA-X6-A8C6-01	soft_tissue	sarcoma	50119416	c.390+2T>G	p.?	Unknown	PATHOGENIC	.97134	Confirmed somatic variant	PMID: N/A	NS	0
IFI30	ENST00000407280	S25_pre	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	50119729	c.254C>T	p.P85L	Substitution - Missense	PATHOGENIC	.96254	Confirmed somatic variant	PMID: 26675346	NS	85
IFI30	ENST00000407280	TCGA-AD-6895-01	large_intestine	carcinoma	50119347	c.-5C>T	p.?	Unknown	NEUTRAL	.10005	Confirmed somatic variant	PMID: N/A	NS	0
IFI30	ENST00000407280	CPCG0206-F1	prostate	carcinoma	50118731	c.606C>T	p.H202=	Substitution - coding silent	NEUTRAL	.10132	Confirmed somatic variant	PMID: N/A	primary	202
IFI30	ENST00000407280	TCGA-PG-A6IB-01	endometrium	carcinoma	50119575	c.693C>T	p.G231=	Substitution - coding silent	NEUTRAL	.01124	Confirmed somatic variant	PMID: N/A	primary	231
IFI30	ENST00000407280	HUB-02-B2-106	large_intestine	carcinoma	50119180	c.390+110C>A	p.?	Unknown	NEUTRAL	.07381	Confirmed somatic variant	PMID: N/A	NS	0
IFI30	ENST00000407280	PCSI_0023_Pa_P	pancreas	carcinoma	50119088	c.484-286G>A	p.?	Unknown	NEUTRAL	.0412	Confirmed somatic variant	PMID: N/A	primary	0
IFI30	ENST00000407280	ZZUFHECRKL-G033T	oesophagus	carcinoma	50119391	c.637-182G>A	p.?	Unknown	NEUTRAL	.02428	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 59 entries

Previous1 2 3Next

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
PF03227	GILT	Gamma interferon inducible lysosomal thiol reductase (GILT)	63-166	CL0172	Thioredoxin	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.72	0.345
Acute Myeloid Leukemia, M1	Neoplasms ;	0.72	0.345
Dermatitis, Allergic Contact	Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.72	0.345
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.72	0.345
NO RESULT FOUND

Description:	interferon gamma inducible protein 30 [Source:MGI Symbol;Acc:MGI:2137648]
Synonyms:	GILT, IP30
Other ID(s):	ENSMUSG00000110777, ENSMUSG00000031838, MGI:2137648
Protein Accession Numbers:	NP_075552,ENSMUST00000222087
Statistics:	gnomAD(287) COSMIC(59) PTM(1)

Classification of Clinicial Significance of ClinVar Data