NCKAP1L Chromosome 12
NCK associated protein 1 like
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What This Gene Does
This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
Associated Conditions (4)
Immunodeficiency 72 with autoinflammation
Cervical cancer
Acute myeloid leukemia
NCKAP1L-related disorder
Key Variants
RS143943543
Conflicting classifications of pathogenicity
Immunodeficiency 72 with autoinflammation, Cervical cancer, Immunodeficiency 72 with autoinflammation
Health Risk
RS144832454
Conflicting classifications of pathogenicity
Health Risk
RS148094880
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS149360088
Conflicting classifications of pathogenicity
NCKAP1L-related disorder, NCKAP1L-related disorder
Health Risk
RS375303752
Conflicting classifications of pathogenicity
Health Risk
RS763605512
Conflicting classifications of pathogenicity
Health Risk
RS1956891911
Likely pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
RS1956961224
Likely pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
RS2498560491
Likely pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
RS2498586215
Likely pathogenic
Health Risk
RS2120893783
Pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
RS2498579362
Pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143943543 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 72 with autoinflammation, Cervical cancer, Immunodeficiency 72 with autoinflammation |
| RS144832454 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148094880 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Acute myeloid leukemia |
| RS149360088 | Health Risk | Conflicting classifications of pathogenicity | NCKAP1L-related disorder, NCKAP1L-related disorder |
| RS375303752 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763605512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1956891911 | Health Risk | Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS1956961224 | Health Risk | Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS2498560491 | Health Risk | Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS2498586215 | Health Risk | Likely pathogenic | — |
| RS2120893783 | Health Risk | Pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS2498579362 | Health Risk | Pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS2498629425 | Health Risk | Pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS750982844 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS770633648 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |