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NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 17, 2014)
Last evaluated:
May 1, 2014
Accession:
VCV000137623.1
Variation ID:
137623
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly)

Allele ID
141326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162288221 (GRCh38) GRCh38 UCSC
2: 163144731 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163144731T>C
NC_000002.12:g.162288221T>C
NM_022168.4:c.1009A>G NP_071451.2:p.Arg337Gly missense
... more HGVS
Protein change
R337G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 606951.0003
dbSNP: rs587777447
ClinGen: CA163191
UniProtKB: Q9BYX4#VAR_071375
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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 May 1, 2014 RCV000125472.4
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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
(May 01, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000168924.3
Submitted: (Jun 17, 2014)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Aicardi goutières syndrome is associated with pulmonary hypertension. Adang LA Molecular genetics and metabolism 2018 PMID: 30219631
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