Variant (rsID / SNP)

rs137955120

rs137955120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUZ, AP2A1. Location: chromosome 19, position 50,310,454. Clinical significance in the table: risk factor.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FUZRisk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 19:50310454
Cytoband: 19q13.33
HGVS: NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln)
Allele change: Missense_R354Q

Associated conditions / phenotypes

Neural tube defects, susceptibility to

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.