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NM_004004.5(GJB2):c.*1447G>A AND Keratitis ichthyosis and deafness syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000329077.3

Allele description [Variation Report for NM_004004.5(GJB2):c.*1447G>A]

NM_004004.5(GJB2):c.*1447G>A

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.5(GJB2):c.*1447G>A
HGVS:
  • NC_000013.11:g.20187454C>T
  • NG_008358.1:g.10522G>A
  • LRG_1350:g.10522G>A
  • NC_000013.10:g.20761593C>T
Links:
dbSNP: rs11839674
NCBI 1000 Genomes Browser:
rs11839674

Condition(s)

Name:
Keratitis ichthyosis and deafness syndrome
Synonyms:
KID syndrome; Keratitis, Ichthyosis, and Deafness (KID) Syndrome; Keratitis-Ichthyosis-Deafness Syndrome
Identifiers:
MONDO: MONDO:0018781; MedGen: C3665333; OMIM: PS148210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000483439Illumina Laboratory Services,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000483439.2

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

Last Updated: Apr 23, 2022

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