RGD:13782624 Rat Genome Database

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Variant: RGD:13782624 -  Homo sapiens

RGD ID: 13782624
RS ID: rs1555869794
ClinVar ID: CV549102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 44,473,971
GRCh38 21 43,053,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000071.2:c.*19G>C
NM_001178008.3:c.*19G>C
NC_000021.9:g.43053861C>G
LRG_777t1:c.*19G>C
More... 		08/30/2017 3 prime utr variant|splice donor variant uncertain significance 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
Disease Annotations     Click to see Annotation Detail View
homocystinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:XM_011529783
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:CBS
Accession:XM_047441032
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_047441028
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:CBS
Accession:XM_047441023
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

Gene Symbol:CBS
Accession:XM_047441019
Location:3UTRS;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 RCV000669093 CLINVAR
dbSNP (RS) rs1555869794 CLINVAR
MedGen C0751202 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 236200 CLINVAR
  613381 CLINVAR