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NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) AND Epidermolysis bullosa simplex, Koebner type

Significance: Pathogenic
ClinVar: RCV000258008

Variant: NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)

Type: Variant
Allele: NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) 259240
Gene:
Type: single nucleotide variant
Location: Chr3: 183650359 - assembly GRCh38
Chr3: 183368147 - assembly GRCh37
References: dbSNP: 886037957
OMIM: 611295.0002

Condition

Disease: Epidermolysis bullosa simplex, Koebner type