rs1057516895 Rat Genome Database

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Variant: rs1057516895 -  Homo sapiens

RGD ID: 12741568
RS ID: rs1057516895
ClinVar ID: CV358633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,476,998
GRCh38 21 43,056,888
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
LRG_777t1:c.1468-1G>A
LRG_777:g.24043G>A
NG_008938.1:g.24043G>A
NC_000021.9:g.43056888C>T
More... 		01/18/2023 splice acceptor variant likely pathogenic childhood 1-9 / 1 000 000 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:NM_001320298
Location:INTRON

Gene Symbol:CBS
Accession:NM_000071
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441021
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441032
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441019
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441029
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441031
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441023
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441017
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529774
Location:INTRON

Gene Symbol:CBS
Accession:NM_001321072
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441030
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441024
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441020
Location:INTRON

Gene Symbol:CBS
Accession:XM_017028491
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441028
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441026
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529783
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441018
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529777
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441022
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441027
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178009
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441033
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178008
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441025
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:10338090   PMID:12124992   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409904 CLINVAR
  RCV001861382 CLINVAR
dbSNP (RS) rs1057516895 CLINVAR
MedGen C0751202 CLINVAR
  C3150344 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 236200 CLINVAR
  613381 CLINVAR