RGD:156257625 Rat Genome Database

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Variant: RGD:156257625 -  Homo sapiens

RGD ID: 156257625
ClinVar ID: CV2102579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 116,403,883
GRCh38 12 115,966,078
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.6387+4G>C
NG_023366.1:g.316109G>C
NC_000012.12:g.115966078C>G
NC_000012.11:g.116403883C>G
 08/10/2023 intron variant benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MED13L
Accession:XM_047428610
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428611
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428609
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428607
Location:INTRON

Gene Symbol:MED13L
Accession:NM_015335
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428608
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428605
Location:INTRON

Gene Symbol:MED13L
Accession:XM_017019090
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002895466 CLINVAR
MedGen C1837341 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR
  608808 CLINVAR