Variant (rsID / SNP)

rs61750814

rs61750814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUP54. Location: chromosome 4, position 77,053,834. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NUP54Not classified

Variant type: missense_variant
Chromosome / position: 4:77053834
HGVS: NM_017426.4,c.749A>G,p.Asn250Ser
Allele change: Missense_N250S

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.