Variant (rsID / SNP)

rs117748213

rs117748213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,470,181. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRIP11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:92470181
Cytoband: 14q32.12
HGVS: NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile)
Allele change: Missense_T1379I

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.