GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000431.4(MVK):c.857C>T (p.Pro286Leu) AND Mevalonic aciduria

Significance: Uncertain significance
ClinVar: RCV000267148

Variant: NM_000431.4(MVK):c.857C>T (p.Pro286Leu)

Type: Variant
Allele: NM_000431.4(MVK):c.857C>T (p.Pro286Leu) 103525
Gene:
Type: single nucleotide variant
Location: Chr12: 109591329 - assembly GRCh38
Chr12: 110029134 - assembly GRCh37
References: dbSNP: 104895379
Illumina Clinical Services Laboratory,Illumina: 479362

Condition

Disease: Mevalonic aciduria