{{Rsnum
|rsid=6713162
|Gene=NEB
|Chromosome=2
|position=151640012
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.4151
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NEB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 67.3 | 29.2 | 3.5
| HCB | 17.5 | 44.5 | 38.0
| JPT | 8.0 | 54.9 | 37.2
| YRI | 4.1 | 33.6 | 62.3
| ASW | 12.3 | 57.9 | 29.8
| CHB | 17.5 | 44.5 | 38.0
| CHD | 13.9 | 43.5 | 42.6
| GIH | 53.5 | 30.7 | 15.8
| LWK | 9.1 | 36.4 | 54.5
| MEX | 63.8 | 36.2 | 0.0
| MKK | 4.5 | 46.2 | 49.4
| TSI | 69.6 | 29.4 | 1.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=6713162
|allele=G
|frequency=
|uid=1103658254469
|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=Ser2912Pro
|aa_change_short=S2912P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6713162
|overall_frequency_n=2894
|overall_frequency_d=9708
|overall_frequency=0.298105
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=51
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=4
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=2
|webscore=N
}}

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