Variant (rsID / SNP)

rs116828761

rs116828761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COLQ. Location: chromosome 3, position 15,497,520. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COLQBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:15497520
Cytoband: 3p25.1
HGVS: NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)
Allele change: Missense_P327S

Associated conditions / phenotypes

Congenital myasthenic syndrome 5

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.