{{Rsnum
|rsid=1061305
|Gene=NEB
|Chromosome=2
|position=151490465
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3719
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LOC101929336,NEB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 39.3 | 45.5 | 15.2
| HCB | 52.6 | 37.2 | 10.2
| JPT | 47.8 | 42.5 | 9.7
| YRI | 26.5 | 54.4 | 19.0
| ASW | 28.1 | 52.6 | 19.3
| CHB | 52.6 | 37.2 | 10.2
| CHD | 52.3 | 40.4 | 7.3
| GIH | 69.3 | 28.7 | 2.0
| LWK | 21.8 | 56.4 | 21.8
| MEX | 46.6 | 44.8 | 8.6
| MKK | 27.6 | 47.4 | 25.0
| TSI | 44.1 | 49.0 | 6.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1061305
|allele=C
|frequency=0.4
|uid=1103658254333
|type=heterozygous_SNP
|hugo=NEB
|ensembl gene=ENSG00000183091
|ensembl transcript=ENST00000172853
|sift=
|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=Ile8402Val
|aa_change_short=I8402V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1061305
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|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}}