Variant (rsID / SNP)

rs78957457

rs78957457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGQ. Location: chromosome 16, position 624,364. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PIGQUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:624364
Cytoband: 16p13.3
HGVS: NM_004204.5(PIGQ):c.290G>T (p.Cys97Phe)
Allele change: Missense_C97F

Associated conditions / phenotypes

Epilepsy

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.