NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Significance: | Likely pathogenic |
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ClinVar: | RCV000002333 |
Variant: NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) |
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Type: | Variant |
Allele: NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) 17284 |
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Gene: | NCF2 |
Type: | Deletion |
Location: |
Chr1: 183590267
- 183590275
- assembly
GRCh38 Chr1: 183559402 - 183559410 - assembly GRCh37 |
References: | dbSNP:
796065033 OMIM: 608515.0006 |
Condition |
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Disease: | Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 |