Variant (rsID / SNP)

rs61742074

rs61742074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT172. Location: chromosome 2, position 27,669,137. Clinical significance in the table: Benign.

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Reference-table entries

IFT172Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:27669137
Cytoband: 2p23.3
HGVS: NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)
Allele change: Silent

Associated conditions / phenotypes

Short-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71

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.