Variant (rsID / SNP)

rs587784258

rs587784258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAFAH1B1. Location: chromosome 17, position 2,570,358. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PAFAH1B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:2570358
Cytoband: 17p13.3
HGVS: NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
Allele change: Nonsense_R89X

Associated conditions / phenotypes

Lissencephaly due to LIS1 mutation

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.