Variant (rsID / SNP)

rs893229476

rs893229476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,883,859. 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: 5:7883859
Cytoband: 5p15.31
HGVS: NM_002454.3(MTRR):c.903+469T>C
Allele change: Silent

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.