Variant (rsID / SNP)

rs147668131

rs147668131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFT172. Location: chromosome 2, position 27,672,571. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IFT172Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:27672571
Cytoband: 2p23.3
HGVS: NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)
Allele change: Missense_E1383K

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.