Variant (rsID / SNP)

rs121908923

rs121908923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COLQ. Location: chromosome 3, position 15,495,345. Clinical significance in the table: Pathogenic.

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Reference-table entries

COLQPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:15495345
Cytoband: 3p25.1
HGVS: NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)
Allele change: Missense_Y396S

Associated conditions / phenotypes

Congenital myasthenic syndrome 5|Myasthenic syndrome, slow-channel congenital

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.