RGD:12841739 Rat Genome Database

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Variant: RGD:12841739 -  Homo sapiens

RGD ID: 12841739
RS ID: rs770671402
ClinVar ID: CV379782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,483,059
GRCh38 21 43,062,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000071.3:c.954+4G>A
NM_001178008.3:c.954+4G>A
NM_001320298.2:c.954+4G>A
NM_000071.2:c.954+4G>A
More... 		12/09/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:NM_001178009
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178008
Location:INTRON

Gene Symbol:CBS
Accession:NM_000071
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529777
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529774
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529783
Location:INTRON

Gene Symbol:CBS
Accession:NM_001320298
Location:INTRON

Gene Symbol:CBS
Accession:NM_001321072
Location:INTRON

Gene Symbol:CBS
Accession:XM_017028491
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441030
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441024
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441025
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441021
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441031
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441027
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441023
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441020
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441028
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441029
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441026
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441022
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441033
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441019
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441018
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441017
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441032
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 Information

Database Acc Id Source(s)
ClinVar RCV000433112 CLINVAR
dbSNP (RS) rs770671402 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 613381 CLINVAR