Variant (rsID / SNP)

rs114156788

rs114156788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC35A1. Location: chromosome 6, position 88,187,082. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC35A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:88187082
Cytoband: 6q15
HGVS: NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)
Allele change: Missense_N7H

Associated conditions / phenotypes

SLC35A1-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.