Full data view for gene G3BP2

Information The variants shown are described using the NM_203505.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
+?/. 2 c.37C>T r.(?) p.(Arg13Trp) Unknown - likely pathogenic (dominant) g.76587173G>A g.75661989G>A C37T - G3BP2_000010 candidate disease-associated gene PubMed: Jia 2022, PubMed: Satterstrom 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD MAC961 PubMed: Jia 2022, PubMed: Satterstrom 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. 3i c.178-2A>C r.spl p.? Unknown - likely pathogenic (dominant) g.76582916T>G g.75657732T>G - - G3BP2_000009 candidate disease-associated gene PubMed: Jia 2022, PubMed: Satterstrom 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD 2-1261-003 PubMed: Jia 2022, PubMed: Yuen 2017 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.451G>A r.(?) p.(Asp151Asn) Unknown - VUS g.76581046C>T g.75655862C>T G3BP2(NM_203505.3):c.451G>A (p.(Asp151Asn)) - G3BP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.451G>A r.(?) p.(Asp151Asn) Unknown - likely pathogenic (dominant) g.76581046C>T g.75655862C>T G451A - G3BP2_000003 candidate disease-associated gene PubMed: Jia 2022, PubMed: Yuen 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD DDD4K.03714 PubMed: Jia 2022, PubMed: McRae 2017 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 6 c.472G>A r.(?) p.(Glu158Lys) Unknown - likely pathogenic (dominant) g.76581025C>T g.75655841C>T G472A - G3BP2_000008 candidate disease-associated gene PubMed: Jia 2022, PubMed: Joanna 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 113530 PubMed: Jia 2022, PubMed: Joanna 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. 7 c.626T>C r.(?) p.(Leu209Pro) Unknown - likely pathogenic (dominant) g.76580350A>G g.75655166A>G T626C - G3BP2_000007 candidate disease-associated gene PubMed: Jia 2022, PubMed: Iossifov 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 12523.p1 PubMed: Jia 2022, PubMed: Iossifov 2014 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.970A>G r.(?) p.(Ile324Val) Both (homozygous) - VUS g.76572300T>C g.75647116T>C - - G3BP2_000001 - Doucette 2021, submitted - rs200985641 Germline yes - - - - DNA SEQ-NG - WES retinal degeneration M69 II-1 Doucette 2021, Submitted Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern. F - Canada Middle eastern origin - - Yes - 2 Lance P Doucette
+?/. 12 c.1197A>C r.(?) p.(Glu399Asp) Unknown - likely pathogenic (dominant) g.76570866T>G g.75645682T>G A1197C - G3BP2_000006 candidate disease-associated gene PubMed: Jia 2022, PubMed: Joanna 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 49254 PubMed: Jia 2022, PubMed: Joanna 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. 12 c.1222A>G r.(?) p.(Lys408Glu) Unknown - likely pathogenic (dominant) g.76570841T>C g.75645657T>C A1222G - G3BP2_000005 candidate disease-associated gene PubMed: Jia 2022, PubMed: McRae 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD DDD4K.01415 PubMed: Jia 2022, PubMed: McRae 2017 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 12 c.1312C>T r.(?) p.(Arg438Cys) Unknown - likely pathogenic (dominant) g.76570751G>A g.75645567G>A C1312T - G3BP2_000004 candidate disease-associated gene PubMed: Jia 2022, PubMed: Joanna 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 118517 PubMed: Jia 2022, PubMed: Joanna 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.1434A>G r.(=) p.(Thr478=) Unknown - likely benign g.76570629T>C g.75645445T>C G3BP2(NM_203505.2):c.1434A>G (p.T478=) - G3BP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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