Variant (rsID / SNP)

rs397514537

rs397514537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1GALT1C1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

C1GALT1C1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro)
Allele change: Missense_S193P

Associated conditions / phenotypes

Polyagglutinable erythrocyte syndrome

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.