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NM_006269.2(RP1):c.4196del (p.Cys1399fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 14, 2016)
Last evaluated:
Mar 18, 2016
Accession:
VCV000225457.1
Variation ID:
225457
Description:
1bp deletion
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NM_006269.2(RP1):c.4196del (p.Cys1399fs)

Allele ID
227323
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
8q12.1
Genomic location
8: 54628078 (GRCh38) GRCh38 UCSC
8: 55540638 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.55540638del
NC_000008.11:g.54628078del
NG_009840.1:g.17012del
... more HGVS
Protein change
C1399fs
Other names
-
Canonical SPDI
NC_000008.11:54628077:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA4751816
dbSNP: rs762951570
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 18, 2016 RCV000490313.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RP1 - - GRCh38
GRCh37
657 684

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Retinitis pigmentosa 1
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267478.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Pierce EA Nature genetics 1999 PMID: 10391211

Text-mined citations for rs762951570...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021