RGD:14726389 Rat Genome Database

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Variant: RGD:14726389 -  Homo sapiens

RGD ID: 14726389
RS ID: rs7053139
ClinVar ID: CV670970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126863275  MED12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 70,342,820
GRCh38 X 71,122,970
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.1485+96A>G
NG_012808.1:g.9415A>G
NC_000023.11:g.71122970A>G
NC_000023.10:g.70342820A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833850 CLINVAR
dbSNP (RS) rs7053139 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC126863275 CLINVAR
  MED12 CLINVAR
OMIM 300188 CLINVAR