NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu) AND Heterotaxy, visceral, X-linked

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2004)

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:
RCV000012191.20

Allele description

NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu)

Gene:
ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu)
HGVS:
  • NC_000023.11:g.137569054A>G
  • NG_008115.2:g.7928A>G
  • NM_003413.3:c.1213A>G
  • NP_003404.1:p.Lys405Glu
  • NC_000023.10:g.136651213A>G
  • NG_008115.1:g.7868A>G
  • O60481:p.Lys405Glu
Protein change:
K405E; LYS405GLU
Links:
UniProtKB: O60481#VAR_025635; OMIM: 300265.0006; dbSNP: rs104894962
NCBI 1000 Genomes Browser:
rs104894962
Molecular consequence:
  • NM_003413.3:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heterotaxy, visceral, X-linked (HTX1)
Synonyms:
Visceral Heterotaxy 1, X-Linked
Identifiers:
MedGen: C1844020; Orphanet: 450; OMIM: 306955

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032425OMIMno assertion criteria providedPathogenic
(Jan 1, 2004)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW.

Am J Hum Genet. 2004 Jan;74(1):93-105. Epub 2003 Dec 16.

PubMed [citation]
PMID:
14681828
PMCID:
PMC1181916

Details of each submission

From OMIM, SCV000032425.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a sporadic case of congenital heart disease heterotaxy (306955) in a female, Ware et al. (2004) identified a lys405-to-glu (K405E) missense mutation in exon 2. This was the first female with congenital heart disease heterotaxy in whom a ZIC3 mutation had been identified.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 21, 2018

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