{{Rsnum
|rsid=6735208
|Gene=NEB
|Chromosome=2
|position=151679984
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.3811
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=NEB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 59.4 | 37.5 | 3.1
| HCB | 24.4 | 46.7 | 28.9
| JPT | 6.8 | 50.0 | 43.2
| YRI | 9.5 | 39.7 | 50.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 24.4 | 46.7 | 28.9
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=6735208
|allele=A
|frequency=0.22
|uid=1103658254522
|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=Lys1027Asn
|aa_change_short=K1027N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6735208
|overall_frequency_n=6918
|overall_frequency_d=9870
|overall_frequency=0.700912
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=70
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}