Variant (rsID / SNP)

rs886037957

rs886037957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL24. Location: chromosome 3, position 183,368,147. Clinical significance in the table: Pathogenic.

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Reference-table entries

KLHL24Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:183368147
Cytoband: 3q27.1
HGVS: NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)
Allele change: Missense_M1I

Associated conditions / phenotypes

Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

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.