RGD:13704419 Rat Genome Database

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Variant: RGD:13704419 -  Homo sapiens

RGD ID: 13704419
RS ID: rs769029919
ClinVar ID: CV537921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 49,424,826
GRCh38 12 49,031,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.49424826A>G
NG_027827.1:g.29282T>C
NC_000012.12:g.49031043A>G
NM_003482.3:c.13531-10T>C
More... 		10/01/2020 intron variant likely benign|uncertain significance Kabuki make-up syndrome; Niikawa-Kuroki syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KMT2D
Accession:NM_003482
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000659808 CLINVAR
  RCV000872429 CLINVAR
  RCV001446522 CLINVAR
  RCV003938011 CLINVAR
dbSNP (RS) rs769029919 CLINVAR
MedGen C0796004 CLINVAR
  C3661900 CLINVAR
  CN030661 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR