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rs10503929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs10503929(C;C)
Make rs10503929(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position32756465
GeneNRG1
is asnp
is mentioned by
dbSNPrs10503929
ebirs10503929
HLIrs10503929
Exacrs10503929
Varsomers10503929
Maprs10503929
PheGenIrs10503929
hapmaprs10503929
1000 genomesrs10503929
hgdprs10503929
ensemblrs10503929
gopubmedrs10503929
geneviewrs10503929
scholarrs10503929
googlers10503929
pharmgkbrs10503929
gwascentralrs10503929
openSNPrs10503929
23andMers10503929
23andMe allrs10503929
SNP Nexus

SNPshotrs10503929
SNPdbers10503929
MSV3drs10503929
GWAS Ctlgrs10503929
GMAF0.09183
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene NRG1
allele C
frequency 0.225
sift TOLERATED
HuRef 1103652290364
Disease Association 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 19435634] Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia


[PMID 22183611OA-icon.png] Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families


[PMID 22574178OA-icon.png] Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients


[PMID 17631867OA-icon.png] Evidence of missense mutations on the neuregulin 1 gene affecting function of prepulse inhibition.


[PMID 18478032OA-icon.png] Neuregulin 1 in neural development, synaptic plasticity and schizophrenia.


[PMID 20921115OA-icon.png] Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.


[PMID 21035784] The influence of schizophrenia-related neuregulin-1 polymorphisms on sensorimotor gating in healthy males.


GET Evidence
NRG1-M294T
aa_change Met294Thr
aa_change_short M294T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.126603
summary



[PMID 23524320OA-icon.png] A Common Missense Variant in the Neuregulin1 Gene is associated with Both Schizophrenia and Sudden Cardiac Death


[PMID 24622944] Striatal Response to Reward Anticipation: Evidence for a Systems-Level Intermediate Phenotype for Schizophrenia