RGD:405121584 Rat Genome Database

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Variant: RGD:405121584 -  Homo sapiens

RGD ID: 405121584
ClinVar ID: CV3063418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 49,445,217
GRCh38 12 49,051,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003482.3:c.2249C>T
NP_003473.3:p.Pro750Leu
NP_003473.3:p.Pro750Leu
NM_003482.4:c.2249C>T
More... 		11/21/2023 missense variant 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 RCV003753054 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR