Variant (rsID / SNP)

rs188321058

rs188321058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT80. Location: chromosome 3, position 160,093,678. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IFT80Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:160093678
Cytoband: 3q25.33
HGVS: NM_020800.3(IFT80):c.371-10C>A
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.