RGD:14738715 Rat Genome Database

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Variant: RGD:14738715 -  Homo sapiens

RGD ID: 14738715
RS ID: rs1601375508
ClinVar ID: CV653671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 44,488,614
GRCh38 21 43,068,504
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.316+5G>C
NM_001178008.3:c.316+5G>C
NM_001320298.2:c.316+5G>C
LRG_777t1:c.316+5G>C
More... 		10/23/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
homocystinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:XM_047441020
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441030
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441022
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178008
Location:INTRON

Gene Symbol:CBS
Accession:XM_017028491
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529777
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529774
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441026
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441021
Location:INTRON

Gene Symbol:CBS
Accession:NM_001321072
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441024
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441019
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441032
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178009
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441033
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441018
Location:INTRON

Gene Symbol:CBS
Accession:NM_000071
Location:INTRON

Gene Symbol:CBS
Accession:NM_001320298
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441023
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441029
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441017
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441031
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529783
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441028
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441025
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441027
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002235562 CLINVAR
dbSNP (RS) rs1601375508 CLINVAR
MedGen C3150344 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 613381 CLINVAR