Variant (rsID / SNP)

rs121434308

rs121434308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPAR6, RB1. Location: chromosome 13, position 48,986,124. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LPAR6Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48986124
Cytoband: 13q14.2
HGVS: NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)
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.