Variant (rsID / SNP)

rs141259390

rs141259390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,441,008. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRIP11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:92441008
Cytoband: 14q32.12
HGVS: NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
Allele change: Missense_T1845I

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.