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NM_000328.3(RPGR):c.894_895del (p.Ser298fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 29, 2014)
Accession:
VCV000143093.1
Variation ID:
143093
Description:
2bp deletion
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NM_000328.3(RPGR):c.894_895del (p.Ser298fs)

Allele ID
152811
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
Xp11.4
Genomic location
X: 38304674-38304675 (GRCh38) GRCh38 UCSC
X: 38163927-38163928 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.38163927_38163928del
NC_000023.11:g.38304674_38304675del
NG_009553.1:g.27861_27862del
... more HGVS
Protein change
S297fs, S298fs, S308fs
Other names
-
Canonical SPDI
NC_000023.11:38304673:AA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270036
dbSNP: rs527236111
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 - RCV000132613.1
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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: SCV000172564.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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 rs527236111...

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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