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Variant (rsID / SNP)

rs746697405

IFT140

rs746697405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,569,962. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IFT140Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Microsatellite
Chromosome / position
16:1569962
Cytoband
16p13.3
HGVS
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])

Associated conditions / phenotypes

Asphyxiating thoracic dystrophy 1|Orofacial-digital syndrome III|Saldino-Mainzer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.