RGD:28898369 Rat Genome Database

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Variant: RGD:28898369 -  Homo sapiens

RGD ID: 28898369
RS ID: rs571247438
ClinVar ID: CV866195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 73,769,198
GRCh38 10 72,009,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004273.5:c.*969A>C
NG_012635.1:g.50079A>C
NC_000010.11:g.72009440A>C
NC_000010.10:g.73769198A>C
More... 		01/13/2018 3 prime utr variant uncertain significance Humero-spinal dysostosis with congenital heart disease; Kozlowski Celermajer Tink syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHST3
Accession:XM_006718075
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:XM_011540369
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:NM_004273
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:XM_047426022
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102970 CLINVAR
dbSNP (RS) rs571247438 CLINVAR
MedGen C1837657 CLINVAR
NCBI Gene CHST3 CLINVAR
OMIM 143095 CLINVAR
  603799 CLINVAR