RGD:15153652 Rat Genome Database

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Variant: RGD:15153652 -  Homo sapiens

RGD ID: 15153652
RS ID: rs143807950
ClinVar ID: CV727048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHMT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 18,259,294
GRCh38 17 18,355,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281786.2:c.-297T>A
NM_148918.3:c.2T>A
NM_004169.5:c.2T>A
NG_017111.1:g.12563T>A
More... 		02/06/2019 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SHMT1
Accession:NM_001281786
Location:5UTRS;EXON

Gene Symbol:SHMT1
Accession:XM_024450887
Location:EXON

Gene Symbol:SHMT1
Accession:NM_004169
Location:EXON

Gene Symbol:SHMT1
Accession:XM_017024957
Location:EXON

Gene Symbol:SHMT1
Accession:XM_017024958
Location:EXON

Gene Symbol:SHMT1
Accession:NM_148918
Location:EXON

Gene Symbol:SHMT1
Accession:XM_047436545
Location:EXON

Gene Symbol:SHMT1
Accession:XM_005256767
Location:EXON

Gene Symbol:SHMT1
Accession:XM_011523992
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880053 CLINVAR
dbSNP (RS) rs143807950 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SHMT1 CLINVAR
OMIM 182144 CLINVAR