RGD:28903129 Rat Genome Database

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Variant: RGD:28903129 -  Homo sapiens

RGD ID: 28903129
RS ID: rs547917558
ClinVar ID: CV866202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 73,769,991
GRCh38 10 72,010,233
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.*1762C>G
NG_012635.1:g.50872C>G
NC_000010.11:g.72010233C>G
NC_000010.10:g.73769991C>G
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_011540369
Location:3UTRS;EXON

Gene Symbol:CHST3
Accession:XM_006718075
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 RCV001104978 CLINVAR
dbSNP (RS) rs547917558 CLINVAR
MedGen C1837657 CLINVAR
NCBI Gene CHST3 CLINVAR
OMIM 143095 CLINVAR
  603799 CLINVAR