RGD:156108336 Rat Genome Database

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Variant: RGD:156108336 -  Homo sapiens

RGD ID: 156108336
ClinVar ID: CV1988561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 116,425,102
GRCh38 12 115,987,297
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.3935-9C>A
NG_023366.1:g.294890C>A
NC_000012.12:g.115987297G>T
NC_000012.11:g.116425102G>T
 09/16/2022 intron variant likely benign
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_047428608
Location:INTRON

Gene Symbol:MED13L
Accession:NM_015335
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428611
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428605
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428607
Location:INTRON

Gene Symbol:MED13L
Accession:XM_047428609
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 RCV002622474 CLINVAR
MedGen C1837341 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR
  608808 CLINVAR