Variant (rsID / SNP)

rs139175351

rs139175351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,779,975. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PCDH15Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:55779975
Cytoband: 10q21.1
HGVS: NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
Allele change: Missense_A910S

Associated conditions / phenotypes

Usher syndrome type 1F|Usher syndrome type 1D

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.