NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) AND Retinitis pigmentosa

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000328.3(RPGR):c.922G>C (p.Ala308Pro)]

NM_000328.3(RPGR):c.922G>C (p.Ala308Pro)

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro)
  • NC_000023.11:g.38304647C>G
  • NG_009553.1:g.27889G>C
  • NM_000328.3:c.922G>CMANE SELECT
  • NM_001034853.2:c.922G>C
  • NM_001367245.1:c.919G>C
  • NM_001367246.1:c.922G>C
  • NM_001367247.1:c.922G>C
  • NM_001367248.1:c.952G>C
  • NM_001367249.1:c.919G>C
  • NM_001367250.1:c.919G>C
  • NM_001367251.1:c.922G>C
  • NP_000319.1:p.Ala308Pro
  • NP_001030025.1:p.Ala308Pro
  • NP_001354174.1:p.Ala307Pro
  • NP_001354175.1:p.Ala308Pro
  • NP_001354176.1:p.Ala308Pro
  • NP_001354177.1:p.Ala318Pro
  • NP_001354178.1:p.Ala307Pro
  • NP_001354179.1:p.Ala307Pro
  • NP_001354180.1:p.Ala308Pro
  • NC_000023.10:g.38163900C>G
  • NM_001034853.1:c.922G>C
  • NR_159803.1:n.1064G>C
  • NR_159804.1:n.973G>C
  • NR_159805.1:n.1064G>C
  • NR_159806.1:n.1064G>C
  • NR_159807.1:n.1064G>C
Protein change:
dbSNP: rs527236112
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000328.3:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001034853.2:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367245.1:c.919G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367246.1:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367247.1:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367248.1:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367249.1:c.919G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367250.1:c.919G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367251.1:c.922G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_159803.1:n.1064G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.973G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.1064G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.1064G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.1064G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Retinitis pigmentosa (RP)
Tapetoretinal degeneration
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000172565Department of Ophthalmology and Visual Sciences Kyoto Universityno assertion criteria providedprobable-pathogenicnot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided


Converted during submission to Likely pathogenic.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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