Variant (rsID / SNP)
rs121913578
rs121913578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,058,770. Clinical significance in the table: Pathogenic.
Reference-table entries
MTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:237058770
- Cytoband
- 1q43
- HGVS
- NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
- Allele change
- Missense_P766L
Associated conditions / phenotypes
Methylcobalamin deficiency type cblG|Epilepsy|Intellectual disability, profound|Inborn genetic diseases|Disorders of Intracellular Cobalamin Metabolism|Decreased methionine synthase activity|Homocystinuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.