RGD:405053171 Rat Genome Database

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Variant: RGD:405053171 -  Homo sapiens

RGD ID: 405053171
ClinVar ID: CV3050014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 83,948,544
GRCh38 16 83,914,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012213.3:c.949-17C>T
NG_009079.1:g.20815C>T
NC_000016.10:g.83914939C>T
NC_000016.9:g.83948544C>T
 07/19/2023 intron variant likely benign 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:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003610719 CLINVAR
MedGen C0342793 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR