Variant (rsID / SNP)

rs201322234

rs201322234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFPT1. Location: chromosome 2, position 69,590,695. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GFPT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:69590695
Cytoband: 2p13.3
HGVS: NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
Allele change: Missense_R111C

Associated conditions / phenotypes

Congenital myasthenic syndrome 12

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.