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Variant (rsID / SNP)

rs201249971

LIPH

rs201249971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPH. Location: chromosome 3, position 185,237,080. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LIPHPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:185237080
Cytoband
3q27.2
HGVS
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)
Allele change
Missense_C246S

Associated conditions / phenotypes

Woolly hair, autosomal recessive 2, with or without hypotrichosis|Hypotrichosis 7|Hypotrichosis simplex

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.