{{Rsnum
|rsid=10503929
|Gene=NRG1
|Chromosome=8
|position=32756465
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.09183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NRG1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.9 | 32.7 | 66.4
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 1.0 | 8.9 | 90.1
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 22.4 | 77.6
| MKK | 0.0 | 9.0 | 91.0
| TSI | 2.0 | 29.4 | 68.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=10503929
|allele=C
|frequency=0.225
|uid=1103652290364
|type=heterozygous_SNP
|hugo=NRG1
|ensembl gene=ENSG00000157168
|ensembl transcript=ENST00000287840
|sift=TOLERATED
|disease=A rare chromosomal aberration involving NRG1 produces gamma-heregulin. Translocation t(8;11) with ODZ4. The translocation fuses the 5'end of ODZ4 to NRG1 (isoform 8). The product of this translocation was first thought to be an alternatively spliced isoform. Gamma-heregulin is a soluble activating ligand for the ERBB2-ERBB3 receptor complex and acts as an autocrine growth factor in a specific breast cancer cell line (MDA-MB-175). Not detected in breast carcinoma samples, including ductal, lobular, medullary, and mucinous histological types, neither in other breast cancer cell lines.
}}

{{PMID Auto
|PMID=19435634
|Title=Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
}}

{{PMID Auto
|PMID=22183611
|Title=Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families
|OA=1
}}

{{PMID Auto
|PMID=22574178
|Title=Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients
|OA=1
}}

{{PMID Auto
|PMID=17631867
|Title=Evidence of missense mutations on the neuregulin 1 gene affecting function of prepulse inhibition.
|OA=1
}}

{{PMID Auto
|PMID=18478032
|Title=Neuregulin 1 in neural development, synaptic plasticity and schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=20921115
|Title=Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.
}}

{{PMID Auto
|PMID=21035784
|Title=The influence of schizophrenia-related neuregulin-1 polymorphisms on sensorimotor gating in healthy males.
}}

{{GET Evidence
|gene=NRG1
|aa_change=Met294Thr
|aa_change_short=M294T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10503929
|overall_frequency_n=1362
|overall_frequency_d=10758
|overall_frequency=0.126603
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23524320
|Title=A Common Missense Variant in the Neuregulin1 Gene is associated with Both Schizophrenia and Sudden Cardiac Death
}}

{{PMID Auto
|PMID=24622944
|Title=Striatal Response to Reward Anticipation: Evidence for a Systems-Level Intermediate Phenotype for Schizophrenia
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}