RGD:11545769 Rat Genome Database

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Variant: RGD:11545769 -  Homo sapiens

RGD ID: 11545769
RS ID: rs41298482
ClinVar ID: CV257873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,356,704
GRCh38 X 71,136,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012808.1:g.23299C>T
NC_000023.11:g.71136854C>T
NC_000023.10:g.70356704C>T
NM_005120.2:c.5401-25C>T
More... 		06/26/2018 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245586 CLINVAR
  RCV001683049 CLINVAR
dbSNP (RS) rs41298482 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR