ConVarT

IFI30 (GeneID: 10437) | Homo sapiens

Description:	IFI30, lysosomal thiol reductase [Source:HGNC Symbol;Acc:HGNC:5398]
Synonyms:	IP30, GILT, IP-30, IFI-30
Other ID(s):	HGNC:5398, ENSG00000216490
Protein Accession Numbers:	ENST00000407280, NP_006323, ENST00000597802
Statistics:	gnomAD(106)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000407280 ENST00000597802 NP_006323

ClinVar Data

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

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
19-18284655-A-T	ENST00000597802	p.Thr2Ser	Missense Variant	3	31366	0.000096	rs369358763
19-18284656-C-T	ENST00000597802	p.Thr2Ile	Missense Variant	0	0	0	rs1345873153
19-18284657-C-G	ENST00000597802	p.Thr2Thr	Synonymous Variant	0	0	0	rs1001978587
19-18284660-G-A	ENST00000597802	p.Leu3Leu	Synonymous Variant	0	0	0	rs1272753870
19-18284663-G-A	ENST00000597802	p.Ser4Ser	Synonymous Variant	0	0	0	rs1481925140
19-18284664-C-T	ENST00000597802	p.Pro5Ser	Missense Variant	0	0	0	rs1207012417
19-18284665-C-T	ENST00000597802	p.Pro5Leu	Missense Variant	0	0	0	rs1252328248
19-18284672-G-A	ENST00000597802	p.Leu7Leu	Synonymous Variant	0	0	0	rs1055793899
19-18284673-C-T	ENST00000597802	p.Leu8Leu	Synonymous Variant	0	0	0	rs1196744267
19-18284680-T-C	ENST00000597802	p.Leu10Pro	Missense Variant	0	0	0	rs1378806319
19-18284681-G-A	ENST00000597802	p.Leu10Leu	Synonymous Variant	0	0	0	rs766452229
19-18284686-C-CGCT	ENST00000597802	p.Leu17dup	Inframe Insertion	1	31002	0.000032	rs1158174387
19-18284686-C-G	ENST00000597802	p.Pro12Arg	Missense Variant	0	0	0	rs1158174387
19-18284686-CGCT-C	ENST00000597802	p.Leu17del	Inframe Deletion	0	31002	0	rs1158174387		AC0,RF
19-18284686-CGCTGCT-C	ENST00000597802	p.Leu16_Leu17del	Inframe Deletion	0	0	0	rs1158174387
19-18284687-G-A	ENST00000597802	p.Pro12Pro	Synonymous Variant	0	0	0	rs373433112
19-18284695-T-C	ENST00000597802	p.Leu15Pro	Missense Variant	0	0	0	rs1368337911
19-18284698-TGCTG-T	ENST00000597802	p.Leu17ThrfsTer15	Frameshift Variant	0	0	0	rs1431303102	lof_flag
19-18284701-TG-T	ENST00000597802	p.Asp18ThrfsTer15	Frameshift Variant	7	31402	0.000223	rs764788458	lof_flag
19-18284703-G-C	ENST00000597802	p.Asp18His	Missense Variant	1	31378	0.000032	rs1399970900

Showing 1 to 20 of 106 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)

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

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)	60-163	CL0172	Thioredoxin	Mus musculus

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

Classification of Clinicial Significance of ClinVar Data