RGD:13504328 Rat Genome Database

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Variant: RGD:13504328 -  Homo sapiens

RGD ID: 13504328
RS ID: rs797045001
ClinVar ID: CV463130
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 49,440,575
GRCh38 12 49,046,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.49046792T>C
NC_000012.11:g.49440575T>C
NM_003482.4:c.4237-2A>G
NG_027827.1:g.13533A>G
More... 		10/26/2016 splice acceptor variant likely pathogenic Kabuki make-up syndrome; Niikawa-Kuroki syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KMT2D
Accession:NM_003482
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:24633898   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000527337 CLINVAR
dbSNP (RS) rs797045001 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR