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NM_000492.3(CFTR):c.376G>A (p.Gly126Ser)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Mar 30, 2013)
Accession:
VCV000053808.1
Variation ID:
53808
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.376G>A (p.Gly126Ser)

Allele ID
68475
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117531001 (GRCh38) GRCh38 UCSC
7: 117171055 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117171055G>A
NC_000007.14:g.117531001G>A
NM_000492.3:c.376G>A NP_000483.3:p.Gly126Ser missense
... more HGVS
Protein change
G126S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA327284
dbSNP: rs397508606
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000577162.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1360 1912

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: literature only
CFTR-related disorders
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679449.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens. Sharma N Human reproduction (Oxford, England) 2009 PMID: 19181743

Record last updated Dec 27, 2019