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NM_000431.4(MVK):c.371+13T>C AND Mevalonic aciduria

Significance: Uncertain significance
ClinVar: RCV000367061

Variant: NM_000431.4(MVK):c.371+13T>C

Type: Variant
Allele: NM_000431.4(MVK):c.371+13T>C 329211
Gene:
Type: single nucleotide variant
Location: Chr12: 109579959 - assembly GRCh38
Chr12: 110017764 - assembly GRCh37
References: dbSNP: 201201471
Illumina Clinical Services Laboratory,Illumina: 117375

Condition

Disease: Mevalonic aciduria