Variant (rsID / SNP)

rs190186284

rs190186284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPS1. Location: chromosome 8, position 116,426,912. Clinical significance in the table: Likely benign.

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Reference-table entries

TRPS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:116426912
Cytoband: 8q23.3
HGVS: NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys)
Allele change: Missense_S1062C

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.