NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys)Rat Genome Database

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Variant : CV39169 (NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys)) Homo sapiens

Symbol: CV39169
Name: NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys)
RGD ID: 8568192
Condition: Abnormality of cardiovascular system morphology [RCV000191918]|Pancreatic agenesis and congenital heart disease [RCV000023135]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 09/17/2014
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: GATA6  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NG_032677.1:g.17074C>T
NC_000018.10:g.22181516C>T
NC_000018.9:g.19761477C>T
NP_005248.2:p.Arg456Cys
NM_005257.5:c.1366C>T
NM_005257.4:c.1366C>T
Q92908:p.Arg456Cys
NG_032677.2:g.17080C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381822,181,516 - 22,181,516CLINVAR
GRCh371819,761,477 - 19,761,477CLINVAR
Cytogenetic Map1818q11.2CLINVAR
Trait Synonyms: Agenesis of hemidiaphragm; Cardiovascular malformations; Congenital diaphragmatic defect; Congenital diaphragmatic hernia; Diaphragmatic hernia; DIH; Heart defect; HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE; Unilateral agenesis of diaphragm
Age Of Onset: all ages|variable
Prevalence: <1 / 1 000 000



Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:22158542   PMID:24385578  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023135 CLINVAR
  RCV000191918 CLINVAR
dbSNP (RS) rs387906818 CLINVAR
MedGen C4012454 CLINVAR
  C4049796 CLINVAR
NCBI Gene GATA6 CLINVAR
OMIM 142340 CLINVAR
  600001 CLINVAR
  601656 CLINVAR
OMIM Allele 601656.0008 CLINVAR