Variant (rsID / SNP)

rs121434297

rs121434297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,855,218. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MTHFRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:11855218
Cytoband: 1p36.22
HGVS: NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)
Allele change: Missense_L323P

Associated conditions / phenotypes

Homocystinuria due to MTHFR deficiency

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.