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NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001003191.2

Allele description [Variation Report for NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)]

NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
HGVS:
  • NC_000023.11:g.38286036_38286037del
  • NG_009553.1:g.46501_46502del
  • NM_000328.3:c.1905+1059_1905+1060del
  • NM_001034853.2:c.2964_2965delMANE SELECT
  • NM_001367245.1:c.1902+1059_1902+1060del
  • NM_001367246.1:c.1719+1059_1719+1060del
  • NM_001367247.1:c.1572+4924_1572+4925del
  • NM_001367248.1:c.1602+4924_1602+4925del
  • NM_001367249.1:c.1569+4924_1569+4925del
  • NM_001367250.1:c.1569+4924_1569+4925del
  • NM_001367251.1:c.1386+4924_1386+4925del
  • NP_001030025.1:p.Glu989fs
  • NC_000023.10:g.38145287_38145288del
  • NC_000023.10:g.38145289_38145290del
  • NM_001034853.1:c.2964_2965del
  • NM_001034853.1:c.2964_2965delGG
Protein change:
E989fs
Links:
dbSNP: rs1555961440
NCBI 1000 Genomes Browser:
rs1555961440
Molecular consequence:
  • NM_001034853.2:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000328.3:c.1905+1059_1905+1060del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1059_1902+1060del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1059_1719+1060del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4924_1572+4925del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4924_1602+4925del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4924_1569+4925del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4924_1569+4925del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4924_1386+4925del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161268Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161268.1

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

Last Updated: Sep 29, 2024