RGD:9683947 Rat Genome Database

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Variant: RGD:9683947 -  Homo sapiens

RGD ID: 9683947
RS ID: rs1025424
ClinVar ID: CV168077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAMBP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 74,087,290
GRCh38 2 73,860,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.73860163T>C
NC_000002.11:g.74087290T>C
NM_201647.1:c.1218+12T>C
NG_033223.2:g.36253T>C
More...
11/27/2020 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:STAMBP
Accession:NM_201647
Location:INTRON

Gene Symbol:AMSH
Accession:NM_006463
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_213622
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_011532485
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353973
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353967
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353971
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353969
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353972
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353976
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353974
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353975
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353970
Location:INTRON

Gene Symbol:STAMBP
Accession:NM_001353968
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442964
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442961
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442970
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442971
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442963
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442962
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442968
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442974
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442973
Location:INTRON

Gene Symbol:STAMBP
Accession:XM_047442972
Location:INTRON

Gene Symbol:STAMBP
Accession:NR_148668
Location:INTRON;NON-CODING

Gene Symbol:STAMBP
Accession:NR_148669
Location:INTRON;NON-CODING

Gene Symbol:STAMBP
Accession:NR_148671
Location:INTRON;NON-CODING

Gene Symbol:STAMBP
Accession:NR_148670
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147670 CLINVAR
  RCV001522134 CLINVAR
dbSNP (RS) rs1025424 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene STAMBP CLINVAR
OMIM 606247 CLINVAR