RGD:150491127 Rat Genome Database

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Variant: RGD:150491127 -  Homo sapiens

RGD ID: 150491127
RS ID: rs76301952
ClinVar ID: CV1210314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 116,409,806
GRCh38 12 115,972,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015335.5:c.5890+77G>A
NG_023366.1:g.310186G>A
NC_000012.12:g.115972001C>T
NC_000012.11:g.116409806C>T
 11/05/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MED13L
Accession:XM_047428607
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428610
Location:INTRON

Gene Symbol:MED13L
Accession:XM_017019090
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428608
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428605
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428609
Location:INTRON

Gene Symbol:MED13L
Accession:NM_015335
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428611
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001592596 CLINVAR
dbSNP (RS) rs76301952 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR