Full data view for gene NRG1

Information The variants shown are described using the transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-908687C>T r.(?) p.(=) Unknown - likely benign g.31497558C>T - NRG1(NM_013962.2):c.58C>T (p.(Pro20Ser)) - NRG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-908399G>A r.(?) p.(=) Unknown - likely benign g.31497846G>A - NRG1(NM_013962.2):c.346G>A (p.E116K) - NRG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-908395C>T r.(?) p.(=) Unknown - likely benign g.31497850C>T g.31640334C>T NRG1(NM_013962.2):c.350C>T (p.P117L) - NRG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-908008A>G r.(?) p.(=) Unknown - likely benign g.31498237A>G - NRG1(NM_013962.2):c.737A>G (p.K246R) - NRG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-822286G>T r.(?) p.(=) Unknown - likely pathogenic g.31583959G>T g.31726443G>T NG_012005.2:g.92222G>T - NRG1_000005 - - - rs538497037 De novo - - - - - DNA SEQ-NG-I blood - HCAD HK164C - - M - Hong Kong - - - - - 1 Xuehan Zhuang
+?/. _1 c.-768384A>G r.(?) p.(=) Unknown - likely pathogenic g.31637861A>G g.31780345A>G NG_012005.2:g.146124A>G - NRG1_000003 - - - - De novo - - - - - DNA SEQ-NG-I blood - HCAD VH108C - - M - Viet Nam - - - - - 1 Xuehan Zhuang
?/. _1 c.-766350G>C r.(?) p.(=) Both (homozygous) - VUS g.31639895G>C g.31782379G>C - - NRG1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. _1 c.-247054G>C r.(?) p.(=) Unknown - likely pathogenic g.32159191G>C - NG_012005.2:g.667454G>C - NRG1_000004 - - - - De novo - - - - - DNA SEQ-NG-I blood - HCAD VH106C - - M - Viet Nam - - - - - 1 Xuehan Zhuang
-?/. - c.72G>A r.(?) p.(Pro24=) Unknown - likely benign g.32406316G>A g.32548798G>A NRG1(NM_013956.4):c.72G>A (p.P24=) - NRG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - benign g.32453358G>A g.32595840G>A NRG1(NM_013956.4):c.113G>A (p.R38Q) - NRG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414T>C r.(?) p.(Gly138=) Unknown - benign g.32472045T>C g.32614527T>C NRG1(NM_013956.4):c.414T>C (p.G138=) - NRG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.451+23A>C r.(=) p.(=) Unknown - benign g.32472105A>C g.32614587A>C NRG1(NM_013956.4):c.451+23A>C - NRG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.502+18689A>G r.(?) p.(=) Parent #1 - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 87/166 cases - - - DNA PCRdig - - SCZD CasMhe PubMed: Yoosefee 2016 87 male cases M - Iran - - - - - 87 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Both (homozygous) - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 45/166 cases - - - DNA PCRdig - - SCZD CasMho PubMed: Yoosefee 2016 45 male cases M - Iran - - - - - 45 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Parent #1 - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 63/110 cases - - - DNA PCRdig - - SCZD CasFhe PubMed: Yoosefee 2016 63 female cases F - Iran - - - - - 63 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Both (homozygous) - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 26/110 cases - - - DNA PCRdig - - SCZD CasFho PubMed: Yoosefee 2016 26 female cases F - Iran - - - - - 26 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Parent #1 - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 70/122 controls - - - DNA PCRdig - - Healthy/Control ConMhe PubMed: Yoosefee 2016 70 male controls M - Iran - - - - - 70 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Both (homozygous) - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 18/122 controls - - - DNA PCRdig - - Healthy/Control ConMho PubMed: Yoosefee 2016 18 male controls M - Iran - - - - - 18 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Parent #1 - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 41/71 controls - - - DNA PCRdig - - Healthy/Control ConFhe PubMed: Yoosefee 2016 41 female controls F - Iran - - - - - 41 Maryam Hatami
+?/. 5i c.502+18689A>G r.(?) p.(=) Both (homozygous) - likely pathogenic g.32493092A>G g.32635573A>G - - NRG1_000002 G allele increased risk developing schizophrenia, esp. in males PubMed: Yoosefee 2016 - rs2439272 Germline - 12/71 controls - - - DNA PCRdig - - Healthy/Control ConFho PubMed: Yoosefee 2016 12 female controls F - Iran - - - - - 12 Maryam Hatami
?/. - c.502+31072C>A r.(=) p.(=) Unknown - VUS g.32505475C>A - NRG1(NM_001322205.2):c.239C>A (p.P80H) - NRG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.502+31230G>C r.(=) p.(=) Unknown - benign g.32505633G>C g.32648114G>C NRG1(NM_013959.3):c.397G>C (p.V133L) - NRG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502+31303T>C r.(=) p.(=) Unknown - likely benign g.32505706T>C - NRG1(NM_013959.3):c.470T>C (p.(Val157Ala)) - NRG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691+30G>C r.(=) p.(=) Unknown - likely benign g.32600281G>C - NRG1(NM_013962.2):c.1264G>C (p.(Glu422Gln)) - NRG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.796G>T r.(?) p.(Val266Leu) Unknown - benign g.32611970G>T g.32754452G>T NRG1(NM_013956.4):c.796G>T (p.V266L), NRG1(NM_013960.5):c.781G>T (p.V261L) - NRG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.796G>T r.(?) p.(Val266Leu) Unknown - benign g.32611970G>T g.32754452G>T NRG1(NM_013956.4):c.796G>T (p.V266L), NRG1(NM_013960.5):c.781G>T (p.V261L) - NRG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826C>T r.(?) p.(Arg276Trp) Unknown - VUS g.32613928C>T g.32756410C>T NRG1(NM_013956.4):c.826C>T (p.R276W) - NRG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.881T>C r.(?) p.(Met294Thr) Unknown - benign g.32613983T>C g.32756465T>C NRG1(NM_013956.4):c.881T>C (p.M294T) - NRG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.945+4C>T r.spl? p.? Unknown - likely benign g.32614051C>T g.32756533C>T NRG1(NM_013956.4):c.945+4C>T - NRG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-5C>T r.spl? p.? Unknown - benign g.32617713C>T g.32760195C>T NRG1(NM_013956.4):c.1077-5C>T, NRG1(NM_013960.5):c.1062-5C>T - NRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-5C>T r.spl? p.? Unknown - benign g.32617713C>T g.32760195C>T NRG1(NM_013956.4):c.1077-5C>T, NRG1(NM_013960.5):c.1062-5C>T - NRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077-4G>A r.spl? p.? Unknown - benign g.32617714G>A g.32760196G>A NRG1(NM_013956.4):c.1077-4G>A - NRG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1111G>A r.(?) p.(Glu371Lys) Unknown - benign g.32617752G>A g.32760234G>A NRG1(NM_013956.4):c.1111G>A (p.E371K) - NRG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1247C>G r.(?) p.(Thr416Ser) Unknown - benign g.32617888C>G g.32760370C>G NRG1(NM_013960.5):c.1232C>G (p.T411S) - NRG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324G>A r.(?) p.(Val442Ile) Unknown - VUS g.32621306G>A g.32763788G>A NRG1(NM_013956.4):c.1324G>A (p.V442I) - NRG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364C>T r.(?) p.(Ser455Leu) Unknown - VUS g.32621346C>T g.32763828C>T NRG1(NM_013956.4):c.1364C>T (p.S455L) - NRG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1380C>T r.(?) p.(Pro460=) Unknown - benign g.32621362C>T g.32763844C>T NRG1(NM_013956.4):c.1380C>T (p.P460=) - NRG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1404G>A r.(?) p.(Met468Ile) Unknown - VUS g.32621386G>A g.32763868G>A NRG1(NM_013956.4):c.1404G>A (p.M468I) - NRG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1530C>T r.(?) p.(Pro510=) Unknown - likely benign g.32621512C>T g.32763994C>T NRG1(NM_013956.4):c.1530C>T (p.P510=) - NRG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1648C>T r.(?) p.(Arg550Trp) Unknown - likely benign g.32621630C>T g.32764112C>T NRG1(NM_013956.4):c.1648C>T (p.R550W), NRG1(NM_013956.5):c.1648C>T (p.R550W) - NRG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1648C>T r.(?) p.(Arg550Trp) Unknown - benign g.32621630C>T g.32764112C>T NRG1(NM_013956.4):c.1648C>T (p.R550W), NRG1(NM_013956.5):c.1648C>T (p.R550W) - NRG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1649G>A r.(?) p.(Arg550Gln) Unknown - benign g.32621631G>A g.32764113G>A NRG1(NM_013956.4):c.1649G>A (p.R550Q) - NRG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1823C>A r.(?) p.(Pro608His) Unknown - benign g.32621805C>A g.32764287C>A NRG1(NM_013956.4):c.1823C>A (p.P608H) - NRG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1862G>T r.(?) p.(Gly621Val) Unknown - benign g.32621844G>T g.32764326G>T NRG1(NM_013956.4):c.1862G>T (p.G621V) - NRG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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