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NM_000492.3(CFTR):c.2T>A (p.Met1Lys)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Mar 30, 2013)
Accession:
VCV000053621.1
Variation ID:
53621
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.2T>A (p.Met1Lys)

Allele ID
68289
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117480096 (GRCh38) GRCh38 UCSC
7: 117120150 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117120150T>A
NC_000007.14:g.117480096T>A
NM_000492.3:c.2T>A NP_000483.3:p.Met1Lys missense
... more HGVS
Protein change
M1K
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA327003
dbSNP: rs397508476
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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 - RCV000577491.1
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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: SCV000679020.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France. des Georges M Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004 PMID: 15698946

Record last updated Jan 18, 2020