NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2009)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039215.4

Allele description [Variation Report for NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)]

NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)

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.5471G>A (p.Arg1824His)
HGVS:
  • NC_000010.11:g.71784389G>A
  • NG_008835.1:g.392443G>A
  • NM_022124.6:c.5471G>AMANE SELECT
  • NP_071407.4:p.Arg1824His
  • NC_000010.10:g.73544146G>A
  • NM_022124.5:c.5471G>A
  • c.5471G>A
Protein change:
R1824H
Links:
dbSNP: rs111033491
NCBI 1000 Genomes Browser:
rs111033491
Molecular consequence:
  • NM_022124.6:c.5471G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062899Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Dec 7, 2009)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062899.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Nov 27, 2021

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