Variant (rsID / SNP)

rs139624629

rs139624629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPM1. Location: chromosome 20, position 49,575,060. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DPM1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:49575060
Cytoband: 20q13.13
HGVS: NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
Allele change: Missense_M1V

Associated conditions / phenotypes

Congenital disorder of glycosylation type 1E

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.