Variant (rsID / SNP)

rs864621974

rs864621974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPS1. Location: chromosome 8, position 116,616,503. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRPS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:116616503
Cytoband: 8q23.3
HGVS: NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter)
Allele change: Nonsense_Q552X

Associated conditions / phenotypes

Trichorhinophalangeal dysplasia type I

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.