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NM_001034853.2(RPGR):c.836_837del (p.Phe279fs) 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:
RCV000085127.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.836_837del (p.Phe279fs)]

NM_001034853.2(RPGR):c.836_837del (p.Phe279fs)

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.836_837del (p.Phe279fs)
HGVS:
  • NC_000023.11:g.38304734_38304735del
  • NG_009553.1:g.27803_27804del
  • NM_000328.3:c.836_837del
  • NM_001034853.2:c.836_837delMANE SELECT
  • NM_001367245.1:c.833_834del
  • NM_001367246.1:c.836_837del
  • NM_001367247.1:c.836_837del
  • NM_001367248.1:c.866_867del
  • NM_001367249.1:c.833_834del
  • NM_001367250.1:c.833_834del
  • NM_001367251.1:c.836_837del
  • NP_000319.1:p.Phe279fs
  • NP_001030025.1:p.Phe279fs
  • NP_001354174.1:p.Phe278fs
  • NP_001354175.1:p.Phe279fs
  • NP_001354176.1:p.Phe279fs
  • NP_001354177.1:p.Phe289fs
  • NP_001354178.1:p.Phe278fs
  • NP_001354179.1:p.Phe278fs
  • NP_001354180.1:p.Phe279fs
  • NC_000023.10:g.38163987_38163988del
  • NM_000328.2:c.834_835delTT
  • NR_159803.1:n.978_979del
  • NR_159804.1:n.887_888del
  • NR_159805.1:n.978_979del
  • NR_159806.1:n.978_979del
  • NR_159807.1:n.978_979del
Protein change:
F278fs
Links:
dbSNP: rs62640586
NCBI 1000 Genomes Browser:
rs62640586
Molecular consequence:
  • NM_000328.3:c.836_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001034853.2:c.836_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367245.1:c.833_834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367246.1:c.836_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367247.1:c.836_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367248.1:c.866_867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367249.1:c.833_834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367250.1:c.833_834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367251.1:c.836_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_159803.1:n.978_979del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.887_888del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.978_979del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.978_979del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.978_979del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117264Retina 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, SCV000117264.1

#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