RGD:11615373 Rat Genome Database

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Variant: RGD:11615373 -  Homo sapiens

RGD ID: 11615373
RS ID: rs184855783
ClinVar ID: CV338964
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 136,653,769
GRCh38 X 137,571,610
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.137571610G>A
NC_000023.10:g.136653769G>A
NM_001330661.1:c.1224+2545G>A
NG_008115.2:g.10484G>A
More... 		01/13/2018 3 prime utr variant likely benign|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_003413
Location:3UTRS;EXON

Gene Symbol:ZIC3
Accession:NM_001330661
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000285322 CLINVAR
  RCV000323790 CLINVAR
  RCV000371410 CLINVAR
dbSNP (RS) rs184855783 CLINVAR
MedGen C1844020 CLINVAR
  C2931228 CLINVAR
  CN239150 CLINVAR
NCBI Gene ZIC3 CLINVAR
OMIM 300265 CLINVAR
  306955 CLINVAR
  314390 CLINVAR