RGD:8690427 Rat Genome Database

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Variant: RGD:8690427 -  Homo sapiens

RGD ID: 8690427
RS ID: rs201158177
ClinVar ID: CV140377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 44,480,544
GRCh38 21 43,060,434
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
NM_000071.3:c.1145+7C>T
NG_008938.1:g.20497C>T
NC_000021.9:g.43060434G>A
NC_000021.8:g.44480544G>A
More... 		04/20/2020 intron variant benign|likely benign childhood 1-9 / 1 000 000 AllHighlyPenetrant; CBS deficiency; Cystathionine beta-synthase deficiency; Homocystinuria due to CBS deficiency; Homocystinuria due to cystathionine beta-synthase deficiency; HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; none provided
Disease Annotations     Click to see Annotation Detail View
homocystinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:XM_047441028
Location:INTRON

Gene Symbol:CBS
Accession:NM_000071
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441023
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178008
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441031
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441020
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529774
Location:INTRON

Gene Symbol:CBS
Accession:NM_001320298
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441029
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441017
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441021
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441027
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441018
Location:INTRON

Gene Symbol:CBS
Accession:XM_017028491
Location:INTRON

Gene Symbol:CBS
Accession:NM_001321072
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441024
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441032
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441026
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441022
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441030
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441025
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441033
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441019
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178009
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529777
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529783
Location:INTRON

Gene Symbol:CBS
Accession:XR_001754915
Location:INTRON;NON-CODING

Gene Symbol:CBS
Accession:XR_007067793
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24990611   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000174216 CLINVAR
  RCV000206277 CLINVAR
  RCV001573779 CLINVAR
  RCV002228272 CLINVAR
dbSNP (RS) rs201158177 CLINVAR
MedGen C0751202 CLINVAR
  C3150344 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 236200 CLINVAR
  613381 CLINVAR