Variant (rsID / SNP)

rs144099135

rs144099135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT80. Location: chromosome 3, position 160,025,451. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IFT80Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:160025451
Cytoband: 3q25.33
HGVS: NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)
Allele change: Silent

Associated conditions / phenotypes

Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2|Connective tissue disorder

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.