Full data view for gene TRA2B

Information The variants shown are described using the NM_004593.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-11_12del r(?) p.0? Unknown - likely pathogenic (dominant) g.185655645_185655667del g.185937857_185937879del - - chr3_007602 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1A>G r(?) p.0? Unknown - likely pathogenic (dominant) g.185655648T>C g.185937860T>C - - chr3_007598 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.1A>T r(?) p.0? Unknown - likely pathogenic (dominant) g.185655648T>A g.185937860T>A - - chr3_007601 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r(?) p.0? Unknown - likely pathogenic (dominant) g.185655647A>G g.185937859A>G - - chr3_007600 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.2T>G r(?) p.0 Unknown - likely pathogenic (dominant) g.185655647A>C g.185937859A>C - - chr3_007595 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
+?/. - c.2_4del r.2_4del p.0 Unknown - likely pathogenic (dominant) g.185655646_185655648del g.185937858_185937860del - - chr3_007596 - PubMed: Ramond 2023 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Pat5 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.16G>T r(?) p.(Glu6Ter) Unknown - likely pathogenic (dominant) g.185655633C>A g.185937845C>A - - chr3_007597 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.19C>T r(?) p.(Gln7Ter) Unknown - likely pathogenic (dominant) g.185655630G>A g.185937842G>A - - chr3_007592 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.170+1del r.spl p.0 Unknown - likely pathogenic (dominant) g.185644389del g.185926601del - - chr3_007593 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. 2i c.170+1G>A r.37_170del p.Glu13ValfsTer2 Unknown ACMG pathogenic (dominant) g.185644388C>T g.185926600C>T - - TRA2B_000004 ACMG PVS1, PS2, PM2 PubMed: Shatokhina 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD FamPatII1 PubMed: Shatokhina 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Russia - - - - - 1 Johan den Dunnen
+?/. - c.170+2T>C r.spl p.0? Unknown - likely pathogenic (dominant) g.185644387A>G g.185926599A>G - - chr3_007594 - PubMed: Ramond 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Ramond 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Israel - - - - - 1 Johan den Dunnen
+?/. - c.171-2A>G r.spl p.0? Paternal (confirmed) - likely pathogenic (dominant) g.185643416T>C g.185925628T>C - - chr3_007599 - PubMed: Ramond 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPat8 PubMed: Ramond 2023 2-generation family, affected son/father, unaffected non-carrier parents M - Chile - - - - - 2 Johan den Dunnen
+?/. - c.171-2A>G r.spl p.0? Unknown - likely pathogenic (dominant) g.185643416T>C g.185925628T>C - - chr3_007599 - PubMed: Ramond 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD FamPat9 PubMed: Ramond 2023 father M - Chile - - - - - 1 Johan den Dunnen
-?/. - c.334-8_334-7del r.(=) p.(=) Unknown - likely benign g.185641787_185641788del - TRA2B(NM_004593.3):c.334-8_334-7del - TRA2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539A>G r.(?) p.(Asn180Ser) Unknown - VUS g.185639898T>C - - - TRA2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859C>T r.(?) p.(Arg287Cys) Unknown - VUS g.185635511G>A - TRA2B(NM_004593.3):c.859C>T (p.R287C) - TRA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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