NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) AND Leber congenital amaurosis

Clinical significance:Uncertain significance (Last evaluated: Sep 18, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000144482.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)]

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
HGVS:
  • NC_000001.11:g.215650692G>A
  • NG_009497.1:g.777705C>T
  • NG_009497.2:g.777757C>T
  • NM_206933.4:c.14243C>TMANE SELECT
  • NP_996816.3:p.Ser4748Phe
  • NC_000001.10:g.215824034G>A
  • NM_206933.2:c.14243C>T
Protein change:
S4748F
Links:
dbSNP: rs527236126
NCBI 1000 Genomes Browser:
rs527236126
Molecular consequence:
  • NM_206933.4:c.14243C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189617Molecular Diagnostics Laboratory,Seoul National University Hospitalno assertion criteria providedUncertain significance
(Sep 18, 2014)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Molecular Diagnostics Laboratory,Seoul National University Hospital, SCV000189617.1

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

Last Updated: Nov 20, 2021

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