Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141379070

SLC35C1

rs141379070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC35C1. Location: chromosome 11, position 45,827,874. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC35C1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:45827874
Cytoband
11p11.2
HGVS
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
Allele change
Synonymous_C161C

Associated conditions / phenotypes

Leukocyte adhesion deficiency type II

Public references

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