U.S. flag

An official website of the United States government

NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000085132.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)]

NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)
HGVS:
  • NC_000023.11:g.38304665A>G
  • NG_009553.1:g.27871T>C
  • NM_000328.3:c.904T>C
  • NM_001034853.2:c.904T>CMANE SELECT
  • NM_001367245.1:c.901T>C
  • NM_001367246.1:c.904T>C
  • NM_001367247.1:c.904T>C
  • NM_001367248.1:c.934T>C
  • NM_001367249.1:c.901T>C
  • NM_001367250.1:c.901T>C
  • NM_001367251.1:c.904T>C
  • NP_000319.1:p.Cys302Arg
  • NP_001030025.1:p.Cys302Arg
  • NP_001354174.1:p.Cys301Arg
  • NP_001354175.1:p.Cys302Arg
  • NP_001354176.1:p.Cys302Arg
  • NP_001354177.1:p.Cys312Arg
  • NP_001354178.1:p.Cys301Arg
  • NP_001354179.1:p.Cys301Arg
  • NP_001354180.1:p.Cys302Arg
  • NC_000023.10:g.38163918A>G
  • NM_000328.2:c.904T>C
  • NM_001034853.1:c.904T>C
  • NR_159803.1:n.1046T>C
  • NR_159804.1:n.955T>C
  • NR_159805.1:n.1046T>C
  • NR_159806.1:n.1046T>C
  • NR_159807.1:n.1046T>C
  • Q92834:p.Cys302Arg
Protein change:
C301R
Links:
UniProtKB: Q92834#VAR_011561; dbSNP: rs62640589
NCBI 1000 Genomes Browser:
rs62640589
Molecular consequence:
  • NM_000328.3:c.904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001034853.2:c.904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367245.1:c.901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367246.1:c.904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367247.1:c.904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367248.1:c.934T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367249.1:c.901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367250.1:c.901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367251.1:c.904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_159803.1:n.1046T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.955T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.1046T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.1046T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.1046T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117269Retina International
no classification provided
not providednot providednot provided

Description

Help

Summary from all submissions

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

Details of each submission

From Retina International, SCV000117269.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022