RGD:405129688 Rat Genome Database

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Variant: RGD:405129688 -  Homo sapiens

RGD ID: 405129688
ClinVar ID: CV2971892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 49,446,046
GRCh38 12 49,052,263
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.1420T>C
NG_027827.1:g.8062T>C
NC_000012.12:g.49052263A>G
NC_000012.11:g.49446046A>G
More... 		01/19/2024 synonymous 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 RCV003754075 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR