RGD:8642418 Rat Genome Database

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Variant: RGD:8642418 -  Homo sapiens

RGD ID: 8642418
RS ID: rs2278036
ClinVar ID: CV101401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 83,941,719
GRCh38 16 83,908,114
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.13990A>T
NC_000016.10:g.83908114A>T
NC_000016.9:g.83941719A>T
NM_012213.2:c.642-12A>T
More... 		12/04/2020 intron|intron variant benign|likely benign childhood <1 / 1 000 000 AllHighlyPenetrant; Malonic acidemia; Malonic aciduria; MCD deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLYCD
Accession:NM_012213
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081529 CLINVAR
  RCV000290322 CLINVAR
  RCV001618253 CLINVAR
dbSNP (RS) rs2278036 CLINVAR
MedGen C0342793 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR