Variant (rsID / SNP)

rs142113735

rs142113735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,058,726. Clinical significance in the table: Benign.

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Reference-table entries

MTRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:237058726
Cytoband: 1q43
HGVS: NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
Allele change: Synonymous_L751L

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.