Full data view for gene TACC2

Information The variants shown are described using the NM_206862.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

Consanguinity     

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VIP     

Data_av     

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Panel size     

Owner     
./. - c.-598238_*11367364dup r.0? p.0? Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.495A>G r.(?) p.(Gln165=) Unknown - likely benign g.123842510A>G g.122082995A>G TACC2(NM_206862.3):c.495A>G (p.Q165=) - TACC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1195G>A r.(?) p.(Gly399Arg) Maternal (confirmed) - VUS g.123843210G>A g.122083695G>A - - TACC2_000001 - Journal: Reynhout 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Fam1Pat1/2 Journal: Chang 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Korea, South (Republic) - - - - - 2 Johan den Dunnen
-?/. - c.1264C>T r.(?) p.(Leu422Phe) Unknown - likely benign g.123843279C>T - TACC2(NM_206862.2):c.1264C>T (p.(Leu422Phe)) - TACC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1342G>T r.(?) p.(Ala448Ser) Unknown - benign g.123843357G>T g.122083842G>T TACC2(NM_206862.3):c.1342G>T (p.A448S) - TACC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628T>G r.(?) p.(His876Gln) Unknown - likely benign g.123844643T>G - TACC2(NM_206862.4):c.2628T>G (p.(His876Gln)) - TACC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2695T>A r.(2695T>A) p.(Ser899Thr) Parent #2 - VUS g.123844710T>A g.122085195T>A - - TACC2_000018 - PubMed: Szczałuba 2018 - rs369006789 Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient;PatB PubMed: Szczałuba 2018, PubMed: Chmielewska 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - 1 Johan den Dunnen
+?/. - c.3134C>T r.(3134C>T) p.(Pro1045Leu) Parent #1 - likely benign g.123845149C>T g.122085634C>T - - TACC2_000017 - PubMed: Szczałuba 2018 - rs143377886 Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient;PatB PubMed: Szczałuba 2018, PubMed: Chmielewska 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - 1 Johan den Dunnen
?/. - c.3440C>T r.(?) p.(Pro1147Leu) Paternal (confirmed) - VUS g.123845455C>T g.122085940C>T - - TACC2_000003 - Journal: Reynhout 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Fam1Pat1/2 Journal: Chang 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Korea, South (Republic) - - - - - 2 Johan den Dunnen
-?/. - c.3635C>G r.(?) p.(Thr1212Arg) Unknown - likely benign g.123845650C>G - TACC2(NM_206862.2):c.3635C>G (p.(Thr1212Arg)) - TACC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4045A>G r.(?) p.(Thr1349Ala) Unknown - likely benign g.123846060A>G - TACC2(NM_206862.4):c.4045A>G (p.(Thr1349Ala)) - TACC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4175T>G r.(?) p.(Val1392Gly) Unknown - likely benign g.123846190T>G - TACC2(NM_206862.4):c.4175T>G (p.(Val1392Gly)) - TACC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4520G>A r.(?) p.(Arg1507Gln) Unknown - likely benign g.123846535G>A - TACC2(NM_206862.2):c.4520G>A (p.(Arg1507Gln)) - TACC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4610C>T r.(?) p.(Ala1537Val) Unknown - VUS g.123846625C>T - TACC2(NM_206862.3):c.4610C>T (p.A1537V) - TACC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5199C>T r.(?) p.(Phe1733=) Unknown - likely benign g.123847214C>T g.122087699C>T TACC2(NM_206862.3):c.5199C>T (p.F1733=) - TACC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5777G>A r.(?) p.(Gly1926Asp) Unknown - likely benign g.123903164G>A g.122143649G>A TACC2(NM_206862.3):c.5777G>A (p.G1926D) - TACC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7156A>G r.(?) p.(Lys2386Glu) Unknown - likely benign g.123971096A>G - TACC2(NM_206862.2):c.7156A>G (p.(Lys2386Glu)) - TACC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8065A>T r.(?) p.(Ile2689Leu) Unknown - VUS g.123989893A>T - TACC2(NM_206862.2):c.8065A>T (p.(Ile2689Leu)) - TACC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8260G>A r.(?) p.(Ala2754Thr) Both (homozygous) - VUS g.123997042G>A g.122237527G>A - - TACC2_000008 reported as candidate disease gene PubMed: Al-Kasbi 2022 - rs538968585 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10BN7500 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - 1 Johan den Dunnen
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