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NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter) 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:
RCV000085140.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)]

NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)

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.994G>T (p.Glu332Ter)
HGVS:
  • NC_000023.11:g.38301312C>A
  • NG_009553.1:g.31224G>T
  • NM_000328.3:c.994G>T
  • NM_001034853.2:c.994G>TMANE SELECT
  • NM_001367245.1:c.991G>T
  • NM_001367246.1:c.994G>T
  • NM_001367247.1:c.994G>T
  • NM_001367248.1:c.1024G>T
  • NM_001367249.1:c.991G>T
  • NM_001367250.1:c.991G>T
  • NM_001367251.1:c.994G>T
  • NP_000319.1:p.Glu332Ter
  • NP_001030025.1:p.Glu332Ter
  • NP_001354174.1:p.Glu331Ter
  • NP_001354175.1:p.Glu332Ter
  • NP_001354176.1:p.Glu332Ter
  • NP_001354177.1:p.Glu342Ter
  • NP_001354178.1:p.Glu331Ter
  • NP_001354179.1:p.Glu331Ter
  • NP_001354180.1:p.Glu332Ter
  • NC_000023.10:g.38160565C>A
  • NM_000328.2:c.994G>T
  • NR_159803.1:n.1196G>T
  • NR_159804.1:n.1045G>T
  • NR_159805.1:n.1136G>T
  • NR_159806.1:n.1136G>T
  • NR_159807.1:n.1136G>T
  • NR_159808.1:n.1248G>T
Protein change:
E331*
Links:
dbSNP: rs62642058
NCBI 1000 Genomes Browser:
rs62642058
Molecular consequence:
  • NR_159803.1:n.1196G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.1045G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.1136G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.1136G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.1136G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159808.1:n.1248G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000328.3:c.994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001034853.2:c.994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367245.1:c.991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367246.1:c.994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367247.1:c.994G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367248.1:c.1024G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367249.1:c.991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367250.1:c.991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001367251.1:c.994G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000117277Retina 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, SCV000117277.1

#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