Variant (rsID / SNP)

rs137938779

rs137938779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,436,180. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRIP11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:92436180
Cytoband: 14q32.12
HGVS: NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His)
Allele change: Missense_R1925H

Associated conditions / phenotypes

Achondrogenesis, type IA

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.