RGD:405183511 Rat Genome Database

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Variant: RGD:405183511 -  Homo sapiens

RGD ID: 405183511
ClinVar ID: CV2899806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 49,435,491
GRCh38 12 49,041,708
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.6184-3C>T
NG_027827.1:g.18617C>T
NC_000012.12:g.49041708G>A
NC_000012.11:g.49435491G>A
 09/05/2023 intron variant uncertain significance Kabuki make-up syndrome; Niikawa-Kuroki syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003589069 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR