Variant (rsID / SNP)

rs6662272

rs6662272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMACHC. Location: chromosome 1, position 45,973,124. Clinical significance in the table: Benign.

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Reference-table entries

MMACHCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:45973124
Cytoband: 1p34.1
HGVS: NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
Allele change: Missense_D3H

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Cobalamin C disease

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.