Variant (rsID / SNP)

rs118204044

rs118204044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMADHC. Location: chromosome 2, position 150,426,603. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMADHCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:150426603
Cytoband: 2q23.2
HGVS: NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
Allele change: Missense_L259P

Associated conditions / phenotypes

Homocystinuria, cblD type, variant 1

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.