Variant (rsID / SNP)

rs4630153

rs4630153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG6. Location: chromosome 1, position 63,881,552. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:63881552
Cytoband: 1p31.3
HGVS: NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
Allele change: Missense_S304F

Associated conditions / phenotypes

ALG6-congenital disorder of glycosylation 1C

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.