Full data view for gene GNB1

Information The variants shown are described using the NM_002074.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.203+1G>A likely pathogenic r.spl? p.? Unknown g.1747194C>T - GNB1(NM_002074.4):c.203+1G>A - GNB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.227A>G - r.(?) p.(Asp76Gly) Unknown g.1737954T>C - - - GNB1_000001 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Ashkenazi >08y06m 0 - - 1 Johan den Dunnen
+/. 6 c.228T>G - r.(?) p.(Asp76Glu) Unknown g.1737953A>C - - - GNB1_000007 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >08y 0 - - 1 Johan den Dunnen
+/. 6 c.229G>A - r.(?) p.(Gly77Ser) Unknown g.1737952C>T - - - GNB1_000008 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States Mexican;Spanish;German >11y 0 - - 1 Johan den Dunnen
+/. - c.230G>C pathogenic r.(?) p.(Gly77Ala) Unknown g.1737951C>G - - - GNB1_000015 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
+/. 6 c.233A>G - r.(?) p.(Lys78Arg) Unknown g.1737948T>C - - - GNB1_000002 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States jewish (Ashkenazi/Sephardic) >00y13m 0 - - 1 Johan den Dunnen
+?/. - c.233A>G likely pathogenic r.(?) p.(Lys78Arg) Unknown g.1737948T>C - GNB1(NM_002074.4):c.233A>G (p.K78R) - GNB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.239T>A - r.(?) p.(Ile80Asn) Unknown g.1737942A>T - - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States jewish (Ashkenazi/Sephardic) >05y 0 - - 1 Johan den Dunnen
+/. 6 c.239T>A - r.(?) p.(Ile80Asn) Unknown g.1737942A>T - - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >06y 0 - - 1 Johan den Dunnen
+/. 6 c.239T>C - r.(?) p.(Ile80Thr) Unknown g.1737942A>G - - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F - - Africa, north >04y 0 - - 1 Johan den Dunnen
+/. 6 c.239T>C - r.(?) p.(Ile80Thr) Unknown g.1737942A>G - - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >04y 0 - - 1 Johan den Dunnen
+/. 6 c.239T>C - r.(?) p.(Ile80Thr) Unknown g.1737942A>G - - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European 10y 0 - - 1 Johan den Dunnen
+/. - c.239T>C pathogenic r.(?) p.(Ile80Thr) Unknown g.1737942A>G - GNB1(NM_002074.4):c.239T>C (p.I80T) - GNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.284T>C - r.(?) p.(Leu95Pro) Unknown g.1736004A>G - - - GNB1_000009 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - Hispanic >04y 0 - - 1 Johan den Dunnen
+/. 7 c.301A>G - r.(?) p.(Met101Val) Unknown g.1735987T>C - - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European >19y 0 - - 1 Johan den Dunnen
+/. 7 c.301A>G - r.(?) p.(Met101Val) Unknown g.1735987T>C - - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no United States European;Filipino >20y 0 - - 1 Johan den Dunnen
+?/. - c.347G>A likely pathogenic r.(?) p.(Gly116Asp) Unknown g.1735941C>T - - - GNB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.353A>G likely pathogenic r.(?) p.(Asp118Gly) Unknown g.1735935T>C - GNB1(NM_002074.4):c.353A>G (p.D118G) - GNB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.433_439del likely pathogenic r.(?) p.(Tyr145Profs*42) Unknown g.1724744_1724750del - GNB1(NM_002074.4):c.433_439delTACCTGT (p.Y145Pfs*42) - GNB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.497+1G>T VUS r.spl? p.? Unknown g.1724683C>A - - - GNB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.833_835del VUS r.(?) p.(Phe278del) Unknown g.1720575_1720577del - - - GNB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.976G>A - r.(?) p.(Ala326Thr) Unknown g.1718817C>T - - - GNB1_000006 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - 0 - DNA SEQ, SEQ-NG - - developmental delay - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - European >17y 0 - - 1 Johan den Dunnen
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