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NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

Significance: Likely pathogenic
ClinVar: RCV000002333

Variant: NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del)

Type: Variant
Allele: NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) 17284
Gene:
Type: Deletion
Location: Chr1: 183590267 - 183590275 - assembly GRCh38
Chr1: 183559402 - 183559410 - assembly GRCh37
References: dbSNP: 796065033
OMIM: 608515.0006

Condition

Disease: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2