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NM_206933.2(USH2A):c.[15319C>T;3902G>T] AND Retinitis pigmentosa 39

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678640.10

Alleles description [Variation Report for NM_206933.2(USH2A):c.[15319C>T;3902G>T]]

NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
HGVS:
  • NC_000001.11:g.216198494C>A
  • NG_009497.2:g.229955G>T
  • NM_007123.6:c.3902G>T
  • NM_206933.4:c.3902G>TMANE SELECT
  • NP_009054.6:p.Gly1301Val
  • NP_996816.3:p.Gly1301Val
  • NC_000001.10:g.216371836C>A
  • NG_009497.1:g.229903G>T
  • NM_007123.5:c.3902G>T
  • NM_206933.2:c.3902G>T
  • c.3902G>T
  • NM_206933.2(USH2A):c.3902G>T
Protein change:
G1301V
Links:
dbSNP: rs111033524
NCBI 1000 Genomes Browser:
rs111033524
Observations:
1

NM_206933.4(USH2A):c.15319C>T (p.Pro5107Ser)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.15319C>T (p.Pro5107Ser)
HGVS:
  • NC_000001.11:g.215629014G>A
  • NG_009497.2:g.799435C>T
  • NM_206933.4:c.15319C>TMANE SELECT
  • NP_996816.3:p.Pro5107Ser
  • NC_000001.10:g.215802356G>A
  • NG_009497.1:g.799383C>T
  • NM_206933.2:c.15319C>T
Protein change:
P5107S
Links:
dbSNP: rs1558028562
NCBI 1000 Genomes Browser:
rs1558028562
Molecular consequence:
  • NM_206933.4:c.15319C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804728Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Uncertain significance
(Sep 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804728.2

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

Last Updated: Jun 2, 2024