NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) AND Heterotaxy, visceral, 1, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2004
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000012191.21

Allele description [Variation Report for NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu)]

NM_003413.4(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_003413.4(ZIC3):c.1213A>G (p.Lys405Glu)

HGVS:

NC_000023.11:g.137569054A>G
NG_008115.2:g.7928A>G
NM_001330661.1:c.1213A>G
NM_003413.4:c.1213A>GMANE SELECT
NP_001317590.1:p.Lys405Glu
NP_003404.1:p.Lys405Glu
NC_000023.10:g.136651213A>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_001330661.1:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003413.4:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Heterotaxy, visceral, 1, X-linked (HTX1)
Synonyms:: Heterotaxy, visceral, X-linked; Dextrocardia with other cardiac malformations; Laterality, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010607; MedGen: C1844020; Orphanet: 450; OMIM: 306955

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032425	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032425

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2004)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000032425.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a sporadic case of congenital heart disease heterotaxy (HTX1; 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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