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: | NCF2 |
| 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 |