RGD:11346103 Rat Genome Database

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Variant: RGD:11346103 -  Homo sapiens

RGD ID: 11346103
ClinVar ID: CV243818
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MED12  
Reference Nucleotide: CT
Variant Nucleotide: --
Position
Assembly Chr Position
GRCh37 X 70,339,337 - 70,339,339
GRCh38 X 71,119,487 - 71,119,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005120.2:c.204+10_204+11delCT
NG_012808.1:g.5932_5933delCT
NC_000023.11:g.71119487_71119488delCT
NC_000023.10:g.70339337_70339338delCT
02/04/2016 intron variant benign MED12-Related Disorders

Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Variant Samples