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NM_000328.3(RPGR):c.469+1G>A

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 29, 2014)
Accession:
VCV000098786.1
Variation ID:
98786
Description:
single nucleotide variant
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NM_000328.3(RPGR):c.469+1G>A

Allele ID
104676
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.4
Genomic location
X: 38318828 (GRCh38) GRCh38 UCSC
X: 38178081 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.38178081C>T
NC_000023.11:g.38318828C>T
NG_009553.1:g.13708G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:38318827:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA226422
dbSNP: rs62638646
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 no assertion criteria provided - RCV000132611.1
not provided 1 no assertion provided - RCV000085107.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RPGR - - GRCh38
GRCh37
645 802

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Retinitis pigmentosa
Allele origin: not provided
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172562.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Retina International
Accession: SCV000117244.1
Submitted: (Dec 20, 2012)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_RPGR:c.469%2B1G>A
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs62638646...

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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 Nov 27, 2021