Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141993139

IFT140

rs141993139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,639,658. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

IFT140Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:1639658
Cytoband
16p13.3
HGVS
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
Allele change
Missense_R253Q

Associated conditions / phenotypes

Saldino-Mainzer syndrome

Public references

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