RGD:11653201 Rat Genome Database

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Variant: RGD:11653201 -  Homo sapiens

RGD ID: 11653201
RS ID: rs886052361
ClinVar ID: CV336272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 83,949,375
GRCh38 16 83,915,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009079.1:g.21646G>A
NC_000016.10:g.83915770G>A
NC_000016.9:g.83949375G>A
NM_012213.3:c.*281G>A
More... 		06/14/2016 3 prime utr variant uncertain significance childhood <1 / 1 000 000 Malonic acidemia; Malonic aciduria; MCD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLYCD
Accession:NM_012213
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000309706 CLINVAR
dbSNP (RS) rs886052361 CLINVAR
MedGen C0342793 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR