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NM_000492.3(CFTR):c.490-2A>G

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Mar 30, 2013)
Accession:
VCV000053975.1
Variation ID:
53975
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.490-2A>G

Allele ID
68642
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117534274 (GRCh38) GRCh38 UCSC
7: 117174328 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117174328A>G
NC_000007.14:g.117534274A>G
LRG_663t1:c.490-2A>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs397508735
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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 - RCV000577657.1
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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
1300 1829

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: SCV000679149.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina. Ramírez AM Molecular genetics and metabolism 2006 PMID: 16423550

Record last updated Sep 10, 2019