Variant (rsID / SNP)

rs140990611

rs140990611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PREPL. Location: chromosome 2, position 44,559,744. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PREPLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:44559744
Cytoband: 2p21
HGVS: NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr)
Allele change: Silent

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.