RGD:405107348 Rat Genome Database

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Variant: RGD:405107348 -  Homo sapiens

RGD ID: 405107348
ClinVar ID: CV2914651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED13L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 116,434,281
GRCh38 12 115,996,476
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.2996A>G
NG_023366.1:g.285711A>G
NC_000012.12:g.115996476T>C
NC_000012.11:g.116434281T>C
More... 		08/11/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30564305  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003498535 CLINVAR
MedGen C1837341 CLINVAR
NCBI Gene MED13L CLINVAR
OMIM 608771 CLINVAR
  608808 CLINVAR