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Variant (rsID / SNP)

rs139539448

TRIP11

rs139539448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,472,218. 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
14:92472218
Cytoband
14q32.12
HGVS
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
Allele change
Missense_N700S

Associated conditions / phenotypes

Achondrogenesis, type IA|Connective tissue disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.