Variant (rsID / SNP)

rs138364426

rs138364426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT140. Location: chromosome 16, position 1,569,872. 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: 16:1569872
Cytoband: 16p13.3
HGVS: NM_014714.4(IFT140):c.4040+10C>T
Allele change: Silent

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.