Variant (rsID / SNP)

rs147432147

rs147432147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPS1. Location: chromosome 8, position 116,617,001. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRPS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:116617001
Cytoband: 8q23.3
HGVS: NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe)
Allele change: Missense_L386F

Associated conditions / phenotypes

Trichorhinophalangeal syndrome, type III|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.