Full data view for gene TAB3

Information The variants shown are described using the NM_152787.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-321T>C r.(?) p.(=) Maternal (inferred) - VUS g.30889857A>G g.30871740A>G - - TAB3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-321T>C r.(?) p.(=) Maternal (inferred) - VUS g.30889857A>G g.30871740A>G - - TAB3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-90-7del r.(=) p.(=) Unknown - VUS g.30877816del g.30859699del TAB3(NM_152787.3):c.-90-9del (p.(=)) - TAB3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-90-7dup r.(=) p.(=) Unknown - likely benign g.30877816dup g.30859699dup TAB3(NM_152787.3):c.-90-9dup (p.(=)) - TAB3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-90-4del r.spl? p.? Unknown - VUS g.30877801del g.30859684del - - TAB3_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-90-1G>A r.spl? p.? Unknown - VUS g.30877796C>T g.30859679C>T TAB3(NM_152787.3):c.-90-1G>A (p.(=)) - TAB3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1_1i c.-663_-383+2577{5} r.(?) p.(=) Maternal (confirmed) - likely benign g.30904654_31256692[5] g.30886537_31238575[5] dup ex64-79 - DMD_069031 insertion of 4 additional tandem copies (multi-copy duplication) PubMed: Ma 2024 - - Germline yes - - - - DNA MLPA, OM, PCR, SEQ - - Healthy/Control FamA PubMed: Ma 2024 2-generation family, 2 carrier males and 2 carrier females F;M - China - - - - - 4 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (recessive) g.(25400000_25878399)_(31987991_32000000)del - hg19 25878399_31987991del - DMD_066683 6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD PubMed: Heide 2015 - - De novo - - - - X-inactivation CpG island 5' CAG repeat AR gene 59%:41% DNA arrayCNV - Illumina CytoSNP12 microarray ID Pat1 PubMed: Heide 2015 - F - France - - - - - 1 Johan den Dunnen
-?/. - c.90G>A r.(=) p.(=) Parent #1 - likely benign g.30877616C>T g.30859499C>T Q30Q - TAB3_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.102+125_102+126dup r.(=) p.(=) Unknown - VUS g.30877508_30877509dup g.30859391_30859392dup - - TAB3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.102+125_102+126dup r.(=) p.(=) Unknown - VUS g.30877508_30877509dup g.30859391_30859392dup - - TAB3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.102+125_102+126dup r.(=) p.(=) Maternal (inferred) - VUS g.30877508_30877509dup g.30859391_30859392dup - - TAB3_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.208C>T r.(?) p.(Arg70Cys) Unknown - VUS g.30873574G>A g.30855457G>A TAB3(NM_152787.3):c.208C>T (p.(Arg70Cys)) - TAB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416C>A r.(?) p.(Pro139Gln) Unknown - VUS g.30873366G>T g.30855249G>T TAB3(NM_152787.4):c.416C>A (p.P139Q) - TAB3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716C>T r.(?) p.(Ser239Leu) Unknown - VUS g.30873066G>A g.30854949G>A TAB3(NM_152787.3):c.716C>T (p.(Ser239Leu)) - TAB3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.743C>T r.(?) p.(Thr248Met) Unknown - likely benign g.30873039G>A - TAB3(NM_152787.4):c.743C>T (p.T248M) - TAB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082G>T r.(?) p.(Gly361Val) Unknown - likely benign g.30872700C>A g.30854583C>A TAB3(NM_152787.3):c.1082G>T (p.(Gly361Val)) - TAB3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180T>C r.(?) p.(Trp394Arg) Maternal (inferred) - VUS g.30872602A>G g.30854485= - - TAB3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1180T>C r.(?) p.(Trp394Arg) Maternal (inferred) - VUS g.30872602A>G g.30854485= - - TAB3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1211C>T r.(?) p.(Thr404Met) Unknown - VUS g.30872571G>A g.30854454G>A TAB3(NM_152787.3):c.1211C>T (p.(Thr404Met)) - TAB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1549+317G>A r.(=) p.(=) Maternal (inferred) - VUS g.30871916C>T g.30853799C>T - - TAB3_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1924C>G r.(?) p.(Arg642Gly) Unknown - likely benign g.30852234G>C g.30834117G>C TAB3(NM_152787.3):c.1924C>G (p.(Arg642Gly)) - TAB3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1975G>A r.(?) p.(Ala659Thr) Unknown - likely benign g.30852183C>T g.30834066C>T TAB3(NM_152787.4):c.1975G>A (p.A659T) - TAB3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1990+197del r.(=) p.(=) Unknown - VUS g.30851972del g.30833855del - - TAB3_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*368C>T r.(=) p.(=) Maternal (inferred) - VUS g.30849176G>A g.30831059G>A - - TAB3_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*368C>T r.(=) p.(=) Maternal (inferred) - VUS g.30849176G>A g.30831059G>A - - TAB3_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*512_*514dup r.(=) p.(=) Unknown - VUS g.30849039_30849041dup g.30830922_30830924dup - - TAB3_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*512_*514dup r.(=) p.(=) Unknown - VUS g.30849039_30849041dup g.30830922_30830924dup - - TAB3_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*513_*514dup r.(=) p.(=) Unknown - VUS g.30849040_30849041dup g.30830923_30830924dup - - TAB3_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*513_*514dup r.(=) p.(=) Unknown - VUS g.30849040_30849041dup g.30830923_30830924dup - - TAB3_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*514dup r.(=) p.(=) Unknown - VUS g.30849041dup g.30830924dup - - TAB3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*514dup r.(=) p.(=) Unknown - VUS g.30849041dup g.30830924dup - - TAB3_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*514dup r.(=) p.(=) Maternal (inferred) - VUS g.30849041dup g.30830924dup - - TAB3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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