{{Rsnum
|rsid=6711382
|Gene=NEB
|Chromosome=2
|position=151674563
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2599
|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 | 0.9 | 17.9 | 81.2
| HCB | 16.2 | 45.6 | 38.2
| JPT | 22.1 | 55.8 | 22.1
| YRI | 15.1 | 55.5 | 29.5
| ASW | 28.1 | 35.1 | 36.8
| CHB | 16.2 | 45.6 | 38.2
| CHD | 25.0 | 41.7 | 33.3
| GIH | 10.9 | 36.6 | 52.5
| LWK | 9.1 | 51.8 | 39.1
| MEX | 0.0 | 17.5 | 82.5
| MKK | 15.5 | 49.0 | 35.5
| TSI | 1.0 | 16.7 | 82.4
| HapMapRevision=28
}}{{Venter SNP
|rsid=6711382
|allele=G
|frequency=0.9
|uid=1103658254516
|type=homozygous_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=Tyr1301His
|aa_change_short=Y1301H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6711382
|overall_frequency_n=8159
|overall_frequency_d=9952
|overall_frequency=0.819835
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=85
|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=-1
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}