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NM_000087.3(CNGA1):c.1271G>A (p.Arg424Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 14, 2016)
Last evaluated:
Mar 18, 2016
Accession:
VCV000225316.1
Variation ID:
225316
Description:
single nucleotide variant
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NM_000087.3(CNGA1):c.1271G>A (p.Arg424Gln)

Allele ID
227269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p12
Genomic location
4: 47937223 (GRCh38) GRCh38 UCSC
4: 47939240 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.47939240C>T
NC_000004.12:g.47937223C>T
NM_000087.3:c.1271G>A NP_000078.2:p.Arg424Gln
... more HGVS
Protein change
R424Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00098
The Genome Aggregation Database (gnomAD) 0.00077
Exome Aggregation Consortium (ExAC) 0.00095
Trans-Omics for Precision Medicine (TOPMed) 0.00115
1000 Genomes Project 0.00120
Links
dbSNP: rs192912733
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 18, 2016 RCV000490331.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNGA1 - - GRCh38
GRCh37
2 71
LOC101927157 - - - GRCh38 - 54

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Retinitis pigmentosa 49
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267258.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. Jin ZB Journal of medical genetics 2008 PMID: 18310263

Record last updated Jun 20, 2019