Variant (rsID / SNP)

rs79494390

rs79494390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,570,262. Clinical significance in the table: Benign.

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Reference-table entries

IFT140Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:1570262
Cytoband: 16p13.3
HGVS: NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)
Allele change: Missense_I1248T

Associated conditions / phenotypes

Saldino-Mainzer syndrome

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.