Variant (rsID / SNP)

rs137853062

rs137853062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,891,518. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTRRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:7891518
Cytoband: 5p15.31
HGVS: NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
Allele change: Missense_S454L

Associated conditions / phenotypes

Methylcobalamin deficiency type cblE

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.