Variant (rsID / SNP)

rs202001185

rs202001185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPS1. Location: chromosome 8, position 116,631,783. Clinical significance in the table: Benign.

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Reference-table entries

TRPS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:116631783
Cytoband: 8q23.3
HGVS: NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg)
Allele change: Missense_Q168R

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.