RGD:405103694 Rat Genome Database

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Variant: RGD:405103694 -  Homo sapiens

RGD ID: 405103694
ClinVar ID: CV2902517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 116,421,046
GRCh38 12 115,983,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.115983241C>T
NC_000012.11:g.116421046C>T
NM_015335.5:c.4831G>A
NG_023366.1:g.298946G>A
More... 		01/30/2024 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003497452 CLINVAR
MedGen C1837341 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR
  608808 CLINVAR