Variant (rsID / SNP)

rs148118523

rs148118523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOLK. Location: chromosome 9, position 131,708,269. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DOLKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:131708269
Cytoband: 9q34.11
HGVS: NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
Allele change: Synonymous_L438L

Associated conditions / phenotypes

DK1-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.