Variant (rsID / SNP)

rs267607219

rs267607219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPH. Location: chromosome 3, position 185,252,648. Clinical significance in the table: Pathogenic.

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Reference-table entries

LIPHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:185252648
Cytoband: 3q27.2
HGVS: NM_139248.3(LIPH):c.322T>C (p.Trp108Arg)
Allele change: Missense_W108R

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.