Variant (rsID / SNP)

rs115596308

rs115596308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPAR6, RB1. Location: chromosome 13, position 48,985,973. Clinical significance in the table: Pathogenic.

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Reference-table entries

LPAR6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48985973
Cytoband: 13q14.2
HGVS: NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)
Allele change: Silent

Associated conditions / phenotypes

Hypotrichosis 8

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.