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NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 7, 2015)
Last evaluated:
Dec 1, 2014
Accession:
VCV000137625.1
Variation ID:
137625
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)

Allele ID
141328
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162281369 (GRCh38) GRCh38 UCSC
2: 163137879 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163137879C>T
NC_000002.12:g.162281369C>T
NM_022168.4:c.1483G>A NP_071451.2:p.Gly495Arg missense
... more HGVS
Protein change
G495R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA163193
UniProtKB: Q9BYX4#VAR_071379
OMIM: 606951.0005
dbSNP: rs672601336
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2014 RCV000125474.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFIH1 - - GRCh38
GRCh37
189 208

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000168926.4
Submitted: (Apr 07, 2015)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Crow YJ Neuropediatrics 2014 PMID: 25243380
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Rice GI Nature genetics 2014 PMID: 24686847

Record last updated Oct 27, 2019