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NM_000431.4(MVK):c.510C>T (p.Asp170=) AND Mevalonic aciduria

Significance: Likely benign
ClinVar: RCV000378359

Variant: NM_000431.4(MVK):c.510C>T (p.Asp170=)

Type: Variant
Allele: NM_000431.4(MVK):c.510C>T (p.Asp170=) 135086
Gene:
Type: single nucleotide variant
Location: Chr12: 109581533 - assembly GRCh38
Chr12: 110019338 - assembly GRCh37
References: dbSNP: 2287218
Illumina Clinical Services Laboratory,Illumina: 11472
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: 45551

Condition

Disease: Mevalonic aciduria