Full data view for gene GNB4

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_021629.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.48T>C r.(?) p.(Asn16=) Unknown - benign g.179143941A>G g.179426153A>G GNB4(NM_021629.4):c.48T>C (p.N16=) - GNB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.48T>C r.(=) p.(=) Parent #1 - benign g.179143941A>G g.179426153A>G - - GNB4_000006 77 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1078749 Germline - 77/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 77 Mohammed Faruq
-/. - c.48T>C r.(=) p.(=) Both (homozygous) - benign g.179143941A>G g.179426153A>G - - GNB4_000006 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1078749 Germline - 2/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.58-18C>T r.(=) p.(=) Unknown - likely benign g.179138733G>A - GNB4(NM_021629.4):c.58-18C>T - GNB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58-8dup r.(=) p.(=) Unknown - benign g.179138729dup - GNB4(NM_021629.4):c.58-8dupT - GNB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86C>T r.(?) p.(Thr29Met) Unknown - VUS g.179138687G>A g.179420899G>A GNB4(NM_021629.3):c.86C>T (p.T29M) - GNB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117T>C r.(?) p.(Ser39=) Unknown - benign g.179137273A>G g.179419485A>G GNB4(NM_021629.4):c.117T>C (p.S39=) - GNB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.158G>A r.(?) p.(Gly53Asp) Parent #1 - pathogenic g.179137232C>T g.179419444C>T - - GNB4_000002 de novo in patient; not in 1920 control chromosomes PubMed: Soong 2013 - - De novo - 1/251 families - - - DNA SEQ - - CMT - PubMed: Soong 2013 2-generation family, unaffected parents F - China - >9y - - - 1 Johan den Dunnen
+/. 4 c.158G>A r.(?) p.(Gly53Asp) Unknown - NA g.179137232C>T g.179419444C>T - - GNB4_000002 expression cloning, no effect protein stability, reduced bradykinin-induced PLCbeta2 activation PubMed: Soong 2013 - - In vitro (cloned) - 1/251 families - - - DNA SEQ - - - - - - - - - - - - - - - -
-/. - c.186T>C r.(?) p.(His62=) Unknown - benign g.179137204A>G g.179419416A>G GNB4(NM_021629.4):c.186T>C (p.H62=) - GNB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204-3T>C r.spl? p.? Unknown - likely benign g.179134347A>G g.179416559A>G GNB4(NM_021629.3):c.204-3T>C - GNB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.265A>G r.256a>g p.Lys89Glu Parent #1 - pathogenic g.179134283T>C g.179416495T>C - - GNB4_000001 linkage, exome sequencing; not in 1920 control chromosomes PubMed: Soong 2013 - - Germline yes 1/251 families - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I - - CMT - PubMed: Soong 2013 4-generation family, 8 affecteds - no China - - - - - 8 Johan den Dunnen
+/. 5 c.265A>G r.(?) p.Lys89Glu Unknown - NA g.179134283T>C g.179416495T>C - - GNB4_000001 expression cloning, no effect protein stability, reduced bradykinin-induced PLCbeta2 activation PubMed: Soong 2013 - - In vitro (cloned) - 1/251 families - - - DNA SEQ - - - - - - - - - - - - - - - -
-?/. - c.333T>C r.(?) p.(Tyr111=) Unknown - likely benign g.179132770A>G - GNB4(NM_021629.3):c.333T>C (p.Y111=) - GNB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.431-13C>T r.(=) p.(=) Unknown - likely benign g.179131582G>A - GNB4(NM_021629.4):c.431-13C>T - GNB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488A>T r.(?) p.(Asp163Val) Unknown - VUS g.179131512T>A - GNB4(NM_021629.4):c.488A>T (p.D163V) - GNB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513C>T r.(?) p.(Ile171=) Unknown - likely benign g.179131386G>A g.179413598G>A GNB4(NM_021629.4):c.513C>T (p.I171=) - GNB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541A>G r.(?) p.(Thr181Ala) Unknown - VUS g.179131358T>C - GNB4(NM_021629.4):c.541A>G (p.T181A) - GNB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574T>G r.(?) p.(Leu192Val) Unknown - VUS g.179131325A>C - GNB4(NM_021629.4):c.574T>G (p.L192V) - GNB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Both (homozygous) - VUS g.179131231G>A g.179413443G>A - - GNB4_000013 - - - rs144385061 Germline - - - - - DNA SEQ-NG-IT - WES ADHD - - - M - Saudi Arabia Arab - - - - 1 Nada Al Tassan
-?/. - c.700-3T>C r.spl? p.? Unknown - likely benign g.179123197A>G - GNB4(NM_021629.4):c.700-3T>C - GNB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710A>G r.(?) p.(Asn237Ser) Unknown - VUS g.179123184T>C g.179405396T>C GNB4(NM_021629.4):c.710A>G (p.N237S) - GNB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800A>G r.(?) p.(Asp267Gly) Unknown - VUS g.179123094T>C - GNB4(NM_021629.4):c.800A>G (p.D267G) - GNB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803A>G r.(?) p.(Asn268Ser) Unknown - VUS g.179123091T>C - GNB4(NM_021629.4):c.803A>G (p.N268S) - GNB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885T>C r.(?) p.(Asn295=) Unknown - likely benign g.179123009A>G g.179405221A>G GNB4(NM_021629.4):c.885T>C (p.N295=) - GNB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917-19T>C r.(=) p.(=) Unknown - likely benign g.179119126A>G - GNB4(NM_021629.4):c.917-19T>C - GNB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.958G>A r.(?) p.(Val320Ile) Unknown - likely benign g.179119066C>T g.179401278C>T GNB4(NM_021629.4):c.958G>A (p.V320I) - GNB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.958G>A r.(?) p.(Val320Ile) Unknown - benign g.179119066C>T - GNB4(NM_021629.4):c.958G>A (p.V320I) - GNB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3G>A r.(=) p.(=) Unknown - benign g.179118998C>T g.179401210C>T GNB4(NM_021629.4):c.*3G>A - GNB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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