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NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 30, 2014)
Last evaluated:
Jul 3, 2014
Accession:
VCV000140751.1
Variation ID:
140751
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe)

Allele ID
150465
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162282558 (GRCh38) GRCh38 UCSC
2: 163139068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1235:g.40972C>T
NC_000002.11:g.163139068G>A
NC_000002.12:g.162282558G>A
... more HGVS
Protein change
L372F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q9BYX4#VAR_071376
OMIM: 606951.0008
dbSNP: rs587777576
ClinGen: CA163489
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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 Jul 3, 2014 RCV000128859.4
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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
(Jul 03, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000172713.3
Submitted: (Jul 30, 2014)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Aicardi-Goutières syndrome is caused by IFIH1 mutations. Oda H American journal of human genetics 2014 PMID: 24995871

Record last updated Oct 27, 2019