Variant (rsID / SNP)

rs121434483

rs121434483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAFAH1B1. Location: chromosome 17, position 2,577,499. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAFAH1B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:2577499
Cytoband: 17p13.3
HGVS: NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
Allele change: Nonsense_R273X

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.