RGD:11629724 Rat Genome Database

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Variant: RGD:11629724 -  Homo sapiens

RGD ID: 11629724
RS ID: rs73372352
ClinVar ID: CV346572
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 44,473,607
GRCh38 21 43,053,497
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178009.3:c.*169C>T
LRG_777t1:c.*383C>T
LRG_777:g.27434C>T
NG_008938.1:g.27434C>T
More... 		05/11/2021 3 prime utr variant benign|likely benign 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_047441023
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001178009
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441026
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529783
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441024
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441025
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441029
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441032
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441033
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441020
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_000071
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441031
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441027
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441022
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529777
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001320298
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441030
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441018
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001178008
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529774
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001321072
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_017028491
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441021
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441028
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441019
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441017
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000331352 CLINVAR
  RCV001675840 CLINVAR
dbSNP (RS) rs73372352 CLINVAR
MedGen C0751202 CLINVAR
  CN517202 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 236200 CLINVAR
  613381 CLINVAR