RGD:155984257 Rat Genome Database

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Variant: RGD:155984257 -  Homo sapiens

RGD ID: 155984257
ClinVar ID: CV1883852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 49,424,938
GRCh38 12 49,031,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003482.4:c.13530+20T>C
NG_027827.1:g.29170T>C
NC_000012.12:g.49031155A>G
NC_000012.11:g.49424938A>G
 06/14/2022 intron variant likely benign Kabuki make-up syndrome; Niikawa-Kuroki syndrome
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003075811 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR