{{Rsnum
|rsid=13013209
|Gene=NEB
|Chromosome=2
|position=151643935
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.3012
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=NEB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 61.4 | 31.8 | 6.8
| JPT | 55.8 | 41.9 | 2.3
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 61.4 | 31.8 | 6.8
| 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=13013209
|allele=G
|frequency=
|uid=1103658254477
|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=Lys2613Ser
|aa_change_short=K2613S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13013209
|overall_frequency_n=1
|overall_frequency_d=126
|overall_frequency=0.00793651
|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=2
|autoscore=3
|webscore=N
}}

{{ClinVar
|ALT=G
|CAF=0.6988; 0.3012
|CHROM=2
|CLNACC=RCV000081143.1
|CLNALLE=1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNHGVS=NC_000002.11:g.152500449C>G
|CLNSIG=2
|CLNSRC=Emory University
|CLNSRCID=14024
|COMMON=1
|Disease=AllHighlyPenetrant
|FwdALT=G
|FwdREF=C
|GENEINFO=NEB:4703
|GENE_ID=4703
|GENE_NAME=NEB
|REF=C
|RSPOS=152500449
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x05016000000017051f100100
|WGT=0
|dbSNPBuildID=121
|rsid=13013209
}}
{{on chip | 23andMe v3}}
{{on chip | HumanOmni1Quad}}