RGD:405108871 Rat Genome Database

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Variant: RGD:405108871 -  Homo sapiens

RGD ID: 405108871
ClinVar ID: CV2867219
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 116,424,162
GRCh38 12 115,986,357
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.4247G>A
NG_023366.1:g.295830G>A
NC_000012.12:g.115986357C>T
NC_000012.11:g.116424162C>T
More... 		11/01/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:21937992   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003498904 CLINVAR
MedGen C1837341 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR
  608808 CLINVAR