Variant (rsID / SNP)

rs142714881

rs142714881 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,878,101. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTRRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:7878101
Cytoband: 5p15.31
HGVS: NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
Allele change: Missense_A149V

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.