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NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser) AND Retinitis pigmentosa 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV004691633.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)]

NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)

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.547C>T (p.Pro183Ser)
HGVS:
  • NC_000023.11:g.38317388G>A
  • NG_009553.1:g.15148C>T
  • NM_000328.3:c.547C>T
  • NM_001034853.2:c.547C>TMANE SELECT
  • NM_001367245.1:c.547C>T
  • NM_001367246.1:c.547C>T
  • NM_001367247.1:c.547C>T
  • NM_001367248.1:c.577C>T
  • NM_001367249.1:c.544C>T
  • NM_001367250.1:c.547C>T
  • NM_001367251.1:c.547C>T
  • NP_000319.1:p.Pro183Ser
  • NP_001030025.1:p.Pro183Ser
  • NP_001354174.1:p.Pro183Ser
  • NP_001354175.1:p.Pro183Ser
  • NP_001354176.1:p.Pro183Ser
  • NP_001354177.1:p.Pro193Ser
  • NP_001354178.1:p.Pro182Ser
  • NP_001354179.1:p.Pro183Ser
  • NP_001354180.1:p.Pro183Ser
  • NC_000023.10:g.38176641G>A
  • NR_159803.1:n.689C>T
  • NR_159805.1:n.689C>T
  • NR_159806.1:n.689C>T
  • NR_159807.1:n.689C>T
  • NR_159808.1:n.957C>T
Protein change:
P182S
Molecular consequence:
  • NM_000328.3:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001034853.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367245.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367246.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367247.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367248.1:c.577C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367249.1:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367250.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367251.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_159803.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159808.1:n.957C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinitis pigmentosa 3
Synonyms:
Cone-rod degeneration X-linked; Choroidoretinal degeneration with retinal reflex in heterozygous women; Retinitis pigmentosa 15
Identifiers:
MONDO: MONDO:0010227; MedGen: C1845667; Orphanet: 791; OMIM: 300029

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004543790Department of Medical Genetics, Erciyes University Faculty of Medicine
no assertion criteria provided
Uncertain significance
(Feb 1, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genetics, Erciyes University Faculty of Medicine, SCV004543790.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 18, 2024