Variant (rsID / SNP)

rs121434307

rs121434307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPAR6, RB1. Location: chromosome 13, position 48,985,998. 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: 13:48985998
Cytoband: 13q14.2
HGVS: NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive woolly hair 1, with or without hypotrichosis

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.