Variant (rsID / SNP)

rs121908155

rs121908155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPM3. Location: chromosome 1, position 155,112,463. Clinical significance in the table: Pathogenic.

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Reference-table entries

DPM3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155112463
Cytoband: 1q22
HGVS: NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)
Allele change: Missense_L115S

Associated conditions / phenotypes

DPM3-congenital disorder of glycosylation

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.