Variant (rsID / SNP)

rs137853116

rs137853116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT80. Location: chromosome 3, position 159,986,323. Clinical significance in the table: Pathogenic.

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Reference-table entries

IFT80Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:159986323
Cytoband: 3q25.33
HGVS: NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)
Allele change: Silent

Associated conditions / phenotypes

Asphyxiating thoracic dystrophy 2

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.