Variant (rsID / SNP)

rs2273186

rs2273186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,473,994. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRIP11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:92473994
Cytoband: 14q32.12
HGVS: NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala)
Allele change: Missense_E505A

Associated conditions / phenotypes

Achondrogenesis, type IA|Connective tissue disorder

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.