RGD:12837908 Rat Genome Database

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Variant: RGD:12837908 -  Homo sapiens

RGD ID: 12837908
RS ID: rs144743356
ClinVar ID: CV373932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STT3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 125,467,034
GRCh38 11 125,597,139
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152713.5:c.149+20C>T
NM_001278503.1:c.149+20C>T
NG_042806.1:g.9345C>T
NC_000011.10:g.125597139C>T
More... 		11/05/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:STT3A
Accession:NM_001278504
Location:5UTRS;INTRON

Gene Symbol:STT3A
Accession:NM_001278503
Location:INTRON

Gene Symbol:STT3A
Accession:NM_152713
Location:INTRON

Gene Symbol:STT3A
Accession:XM_047426898
Location:INTRON

Gene Symbol:STT3A
Accession:XM_047426897
Location:INTRON

Gene Symbol:STT3A
Accession:XM_047426895
Location:INTRON

Gene Symbol:STT3A
Accession:XM_011542807
Location:INTRON

Gene Symbol:STT3A
Accession:XM_047426896
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425987 CLINVAR
  RCV002059825 CLINVAR
dbSNP (RS) rs144743356 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene STT3A CLINVAR
OMIM 601134 CLINVAR