RGD:405118072 Rat Genome Database

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Variant: RGD:405118072 -  Homo sapiens

RGD ID: 405118072
ClinVar ID: CV3019121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 49,444,574
GRCh38 12 49,050,791
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.2798-1G>A
NG_125617.1:g.698C>T
NG_027827.1:g.9534G>A
NC_000012.12:g.49050791C>T
More... 		05/09/2023 splice acceptor variant likely pathogenic Kabuki make-up syndrome; Niikawa-Kuroki syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22126750   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003752640 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR