Variant (rsID / SNP)

rs61747073

rs61747073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT172. Location: chromosome 2, position 27,682,309. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IFT172Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:27682309
Cytoband: 2p23.3
HGVS: NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln)
Allele change: Missense_R908Q

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.