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Variant (rsID / SNP)

rs149903512

SLC35A1

rs149903512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC35A1. Location: chromosome 6, position 88,182,728. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC35A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:88182728
Cytoband
6q15
HGVS
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser)
Allele change
Missense_A3S

Associated conditions / phenotypes

SLC35A1-congenital disorder of glycosylation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.