NM_022124.6(CDH23):c.4104+4A>T AND Usher syndrome type 1D

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000119816.1

Allele description [Variation Report for NM_022124.6(CDH23):c.4104+4A>T]

NM_022124.6(CDH23):c.4104+4A>T

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.4104+4A>T
HGVS:
  • NC_000010.11:g.71732379A>T
  • NG_008835.1:g.340433A>T
  • NM_001168390.2:c.-6+5349T>A
  • NM_001171930.2:c.4108A>T
  • NM_022124.6:c.4104+4A>TMANE SELECT
  • NP_001165401.1:p.Arg1370Trp
  • NC_000010.10:g.73492136A>T
  • NM_022124.3:c.4104+4A>T
Protein change:
R1370W
Links:
dbSNP: rs483353052
NCBI 1000 Genomes Browser:
rs483353052
Molecular consequence:
  • NM_001168390.2:c.-6+5349T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.4104+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171930.2:c.4108A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154742Molecular Genetics Laboratory; Baylor College of Medicinecriteria provided, single submitter
unknownnot providednot provided

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL.

BMJ Open. 2015 May 19;5(5):e007506. doi: 10.1136/bmjopen-2014-007506.

PubMed [citation]
PMID:
25991456
PMCID:
PMC4442153

Details of each submission

From Molecular Genetics Laboratory; Baylor College of Medicine, SCV000154742.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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