RGD:405133063 Rat Genome Database

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Variant: RGD:405133063 -  Homo sapiens

RGD ID: 405133063
ClinVar ID: CV2994282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 49,415,671
GRCh38 12 49,021,888
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.16522-16C>T
NG_027827.1:g.38437C>T
NC_000012.12:g.49021888G>A
NC_000012.11:g.49415671G>A
 02/10/2023 intron variant likely benign Kabuki make-up syndrome; Niikawa-Kuroki syndrome
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 RCV003754425 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR