{{Rsnum
|rsid=7426114
|Gene=NEB
|Chromosome=2
|position=151671058
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4302
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NEB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 3.5 | 29.2 | 67.3
| HCB | 35.0 | 46.7 | 18.2
| JPT | 36.6 | 55.4 | 8.0
| YRI | 76.2 | 21.8 | 2.0
| ASW | 52.6 | 38.6 | 8.8
| CHB | 35.0 | 46.7 | 18.2
| CHD | 43.1 | 44.0 | 12.8
| GIH | 15.8 | 31.7 | 52.5
| LWK | 59.1 | 36.4 | 4.5
| MEX | 0.0 | 37.9 | 62.1
| MKK | 51.9 | 44.9 | 3.2
| TSI | 1.0 | 29.4 | 69.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=7426114
|allele=T
|frequency=
|uid=1103658254510
|type=heterozygous_SNP
|hugo=NEB
|ensembl gene=ENSG00000183091
|ensembl transcript=ENST00000172853
|sift=TOLERATED
|disease=Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) (MIM:256030). Nemaline myopathy (MIM:161800) is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination. The clinical phenotype is highly variable, with differing age at onset and severity. NEM2 inheritance is autosomal recessive.
}}

{{GET Evidence
|gene=NEB
|aa_change=Val1491Met
|aa_change_short=V1491M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7426114
|overall_frequency_n=6876
|overall_frequency_d=10418
|overall_frequency=0.660012
|n_genomes=39
|n_genomes_annotated=0
|n_haplomes=61
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}