NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Apr 6, 2020)

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:
RCV001270375.1

Allele description [Variation Report for NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)]

NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
HGVS:
  • NC_000010.11:g.71705023C>T
  • NG_008835.1:g.313077C>T
  • NM_001171930.2:c.2846C>T
  • NM_001171931.2:c.2846C>T
  • NM_022124.6:c.2846C>TMANE SELECT
  • NP_001165401.1:p.Thr949Ile
  • NP_001165402.1:p.Thr949Ile
  • NP_071407.4:p.Thr949Ile
  • NC_000010.10:g.73464780C>T
  • NM_022124.5:c.2846C>T
Protein change:
T949I
Links:
Molecular consequence:
  • NM_001171930.2:c.2846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171931.2:c.2846C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.2846C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 12 (DFNB12)
Identifiers:
MONDO: MONDO:0011067; MedGen: C1832394; Orphanet: 90636; OMIM: 601386
Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067
Name:
Pituitary adenoma 5, multiple types
Identifiers:
MONDO: MONDO:0054601; MedGen: C4539685; OMIM: 617540

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001450655Service de Génétique Moléculaire,Hôpital Robert Debréno assertion criteria providedUncertain significance
(Apr 6, 2020)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire,Hôpital Robert Debré, SCV001450655.1

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

Last Updated: Oct 7, 2021

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