Variant (rsID / SNP)

rs370596113

rs370596113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMACHC. Location: chromosome 1, position 45,974,519. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMACHCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45974519
Cytoband: 1p34.1
HGVS: NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
Allele change: Nonsense_R104X

Associated conditions / phenotypes

Cobalamin C disease|Methylmalonic acidemia with homocystinuria cblC

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.