Variant (rsID / SNP)

rs587784250

rs587784250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAFAH1B1. Location: chromosome 17, position 2,569,313. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PAFAH1B1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:2569313
Cytoband: 17p13.3
HGVS: NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
Allele change: Missense_E41K

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.