Variant (rsID / SNP)

rs201868115

rs201868115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPH. Location: chromosome 3, position 185,237,074. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LIPHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:185237074
Cytoband: 3q27.2
HGVS: NM_139248.3(LIPH):c.742C>A (p.His248Asn)
Allele change: Missense_H248N

Associated conditions / phenotypes

Woolly hair, autosomal recessive 2, 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.