RGD:156288749 Rat Genome Database

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Variant: RGD:156288749 -  Homo sapiens

RGD ID: 156288749
ClinVar ID: CV1998038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2D  LOC126861520  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 49,443,020
GRCh38 12 49,049,237
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.3907-19G>T
NG_027827.1:g.11088G>T
NG_086019.1:g.377C>A
NC_000012.12:g.49049237C>A
More... 		01/21/2022 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002647109 CLINVAR
MedGen C0796004 CLINVAR
NCBI Gene KMT2D CLINVAR
  LOC126861520 CLINVAR
OMIM 147920 CLINVAR
  602113 CLINVAR
SNOMED CT 313426007 CLINVAR