Variant (rsID / SNP)

rs201400293

rs201400293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PREPL. Location: chromosome 2, position 44,550,411. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PREPLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:44550411
Cytoband: 2p21
HGVS: NM_001171613.2(PREPL):c.1619T>C (p.Ile540Thr)
Allele change: Missense_I563T

Associated conditions / phenotypes

Myasthenic syndrome, congenital, 22

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.