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Variant (rsID / SNP)

rs201384469

IFT140

rs201384469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,576,655. 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
single nucleotide variant
Chromosome / position
16:1576655
Cytoband
16p13.3
HGVS
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)
Allele change
Missense_R848C

Associated conditions / phenotypes

Saldino-Mainzer syndrome|Microcephaly

Public references

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