RGD:8568532 Rat Genome Database

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Variant: RGD:8568532 -  Homo sapiens

RGD ID: 8568532
RS ID: rs1567106459
ClinVar ID: CV39670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHSY1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 101,775,785
GRCh38 15 101,235,580
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_000015.10:g.101235580G>C
NG_031908.1:g.21353C>G
NM_014918.4:c.321-3C>G
NC_000015.9:g.101775785G>C
More... 		02/24/2011 intron variant pathogenic neonatal/infancy <1 / 1 000 000 Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHSY1
Accession:XM_011521364
Location:INTRON

Gene Symbol:CHSY1
Accession:XM_047432240
Location:INTRON

Gene Symbol:CHSY1
Accession:NM_014918
Location:INTRON

Gene Symbol:CHSY1
Accession:XM_017022011
Location:INTRON

Gene Symbol:CHSY1
Accession:XM_024449873
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19952732   PMID:21129728  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023691 CLINVAR
dbSNP (RS) rs1567106459 CLINVAR
MedGen C1854466 CLINVAR
NCBI Gene CHSY1 CLINVAR
OMIM 605282 CLINVAR
  608183 CLINVAR
OMIM Allele 608183.0004 CLINVAR