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Variant (rsID / SNP)

rs148023627

TRPS1

rs148023627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPS1. Location: chromosome 8, position 116,426,808. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:116426808
Cytoband
8q23.3
HGVS
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
Allele change
Missense_L1097F

Associated conditions / phenotypes

Trichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I

Public references

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