Variant (rsID / SNP)

rs115186224

rs115186224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 236,995,258. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MTRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:236995258
Cytoband: 1q43
HGVS: NM_000254.3(MTR):c.1076-8C>T
Allele change: Silent

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG

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.