Variant (rsID / SNP)

rs138607412

rs138607412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMADHC. Location: chromosome 2, position 150,427,678. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MMADHCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:150427678
Cytoband: 2q23.2
HGVS: NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
Allele change: Missense_N206S

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylmalonic aciduria and homocystinuria type cblD

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.