RGD:14724644 Rat Genome Database

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Variant: RGD:14724644 -  Homo sapiens

RGD ID: 14724644
RS ID: rs12852829
ClinVar ID: CV670148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 70,356,642
GRCh38 X 71,136,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005120.3:c.5401-87T>C
NG_012808.1:g.23237T>C
NC_000023.11:g.71136792T>C
NC_000023.10:g.70356642T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833079 CLINVAR
dbSNP (RS) rs12852829 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR