RGD:150460036 Rat Genome Database

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Variant: RGD:150460036 -  Homo sapiens

RGD ID: 150460036
RS ID: rs765021303
ClinVar ID: CV1268432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 116,714,823
GRCh38 12 116,277,018
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.72+42G>C
NG_023366.1:g.5169G>C
NC_000012.12:g.116277018C>G
NC_000012.11:g.116714823C>G
 03/26/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MED13L
Accession:XM_047428608
Location:5UTRS;INTRON

Gene Symbol:MED13L
Accession:NM_015335
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428611
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428609
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428610
Location:INTRON

Gene Symbol:MED13L
Accession:XM_017019090
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428605
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428607
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001693429 CLINVAR
dbSNP (RS) rs765021303 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR