RGD:11628619 Rat Genome Database

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Variant: RGD:11628619 -  Homo sapiens

RGD ID: 11628619
RS ID: rs1022475218
ClinVar ID: CV348520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 136,648,372
GRCh38 X 137,566,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.11:g.137566213C>T
NC_000023.10:g.136648372C>T
NG_008115.2:g.5087C>T
NM_001330661.1:c.-479C>T
More... 		06/14/2016 5 prime utr variant uncertain significance infancy 1-5 / 10 000|<1 / 1 000 000 Dextrocardia with other cardiac malformations; Heterotaxy, visceral, X-linked; Laterality, X-linked; Situs inversus, complex cardiac defects, and splenic defects, X-linked; VACTERL Association with Hydrocephalus, X-linked; VACTERL association with hydrocephaly, X-linked; VACTERL ASSOCIATION, X-LINKED; VACTERL-H, X-LINKED; Visceral heterotaxia; X-linked VACTERL-H syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZIC3
Accession:NM_001330661
Location:5UTRS;EXON

Gene Symbol:ZIC3
Accession:NM_003413
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305791 CLINVAR
  RCV000340786 CLINVAR
  RCV000399858 CLINVAR
dbSNP (RS) rs1022475218 CLINVAR
MedGen C1844020 CLINVAR
  C2931228 CLINVAR
  CN239150 CLINVAR
NCBI Gene ZIC3 CLINVAR
OMIM 300265 CLINVAR
  306955 CLINVAR
  314390 CLINVAR