Full data view for gene PTK7

Information The variants shown are described using the NM_002821.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.79+335G>A r.(?) p.(=) Unknown - VUS g.43044640G>A g.43076902G>A - - PTK7_000026 Variant is located in exon 1 of transcript NM_001270398.1 (c.19G>A) - - rs139636574 Germline ? - - - - DNA SEQ-NG - - ? - - - F ? - - - - - - 1 Isabel Filges
-?/. - c.79+356C>T r.(=) p.(=) Unknown - likely benign g.43044661C>T - PTK7(NM_001270398.1):c.40C>T (p.(Pro14Ser)) - KLC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79+402C>A r.(=) p.(=) Unknown - likely benign g.43044707C>A - PTK7(NM_001270398.1):c.86C>A (p.(Pro29His)) - KLC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - VUS g.43096909C>T g.43129171C>T NM_001270398.2:c.298C>T - PTK7_000032 - PubMed: Mansoorshahi 2024 - rs374071426 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV321 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.338G>A r.(?) p.(Arg113His) Unknown - VUS g.43096973G>A g.43129235G>A - - PTK7_000017 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.359A>G r.(?) p.(Asn120Ser) Unknown - VUS g.43096994A>G g.43129256A>G - - PTK7_000018 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.481C>G r.(?) p.(Gln161Glu) Unknown - VUS g.43097978C>G g.43130240C>G - - PTK7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.557C>T r.(?) p.(Thr186Met) Unknown - pathogenic g.43098054C>T g.43130316C>T - - PTK7_000004 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.563G>A r.(?) p.(Arg188Gln) Unknown - VUS g.43098060G>A g.43130322G>A - - PTK7_000006 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
-?/. 6 c.821A>G r.(?) p.(His274Arg) Parent #1 - likely benign g.43099762A>G g.43132024A>G - - PTK7_000001 not conserved, not causative PubMed: Di Gregorio 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - SCA - PubMed: Di Gregorio 2014 4-generation family, 11 affecteds (5F, 6M) - no Italy - - - - - 11 Johan den Dunnen
?/. - c.826C>T r.(?) p.(Arg276Cys) Unknown - VUS g.43099767C>T g.43132029C>T - - PTK7_000009 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.827G>A r.(?) p.(Arg276His) Unknown - VUS g.43099768G>A g.43132030G>A - - PTK7_000010 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.977C>T r.(?) p.(Pro326Leu) Unknown - VUS g.43100174C>T g.43132436C>T - - PTK7_000019 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
-?/. - c.1059C>G r.(?) p.(Ser353Arg) Unknown - likely benign g.43100256C>G - PTK7(NM_002821.4):c.1059C>G (p.(Ser353Arg)) - PTK7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1084C>T r.(?) p.(Arg362Trp) Unknown - VUS g.43100281C>T g.43132543C>T - - PTK7_000011 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - - - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.1214A>G r.(?) p.(Asn405Ser) Unknown - VUS g.43100411A>G g.43132673A>G - - PTK7_000025 - - - rs138575208 Germline ? - - - - DNA SEQ-NG - - ? - - - F ? - - - - - - 1 Isabel Filges
-?/. - c.1228A>T r.(?) p.(Thr410Ser) Unknown - likely benign g.43100425A>T g.43132687A>T PTK7(NM_001270398.1):c.1252A>T (p.(Thr418Ser)) - PTK7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654G>A r.(?) p.(Ala552Thr) Unknown - VUS g.43109441G>A g.43141703G>A - - PTK7_000020 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.1714G>A r.(?) p.(Ala572Thr) Unknown - VUS g.43109501G>A g.43141763G>A - - PTK7_000008 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.1799G>A r.(?) p.(Arg600His) Unknown - VUS g.43109699G>A g.43141961G>A - - PTK7_000021 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
+/. - c.1888C>A r.(?) p.(Arg630Ser) Unknown - pathogenic g.43109788C>A g.43142050C>A - - PTK7_000005 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2093C>G r.(?) p.(Pro698Arg) Unknown - VUS g.43111200C>G g.43143462C>G - - PTK7_000012 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2093C>G r.(?) p.(Pro698Arg) Unknown - VUS g.43111200C>G g.43143462C>G - - PTK7_000012 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
+?/. - c.2174A>T r.(?) p.(Tyr725Phe) Unknown - likely pathogenic g.43111281A>T g.43143543A>T - - PTK7_000007 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - ? - - China - - - - 1 Yunping Lei
-?/. - c.2218G>A r.(?) p.(Glu740Lys) Unknown - likely benign g.43111325G>A - PTK7(NM_002821.4):c.2218G>A (p.(Glu740Lys)) - PTK7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218G>T r.(?) p.(Glu740*) Unknown - VUS g.43111325G>T - PTK7(NM_002821.5):c.2218G>T (p.E740*) - PTK7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2269G>A r.(?) p.(Gly757Arg) Unknown - VUS g.43112206G>A g.43144468G>A - - PTK7_000022 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2299G>A r.(?) p.(Val767Met) Unknown - VUS g.43112236G>A g.43144498G>A - - PTK7_000023 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
-?/. - c.2323G>A r.(?) p.(Gly775Ser) Unknown - likely benign g.43112260G>A - PTK7(NM_002821.4):c.2323G>A (p.(Gly775Ser)) - PTK7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2330C>T r.(?) p.(Ala777Val) Unknown - VUS g.43112267C>T g.43144529C>T - - PTK7_000027 - - - rs34764696 Germline yes - - - - DNA SEQ-NG-I Blood gene panel cancer, colon Fam301 - - - - - - - - - - 3 Xiang Jiao
?/. - c.2330C>T r.(?) p.(Ala777Val) Unknown - VUS g.43112267C>T g.43144529C>T - - PTK7_000027 - - - rs34764696 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, colon Fam110 - - - - - - - - - - 2 Xiang Jiao
?/. - c.2345G>T r.(?) p.(Arg782Leu) Unknown - VUS g.43112282G>T g.43144544G>T - - PTK7_000013 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2345G>T r.(?) p.(Arg782Leu) Unknown - VUS g.43112282G>T g.43144544G>T - - PTK7_000013 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2348A>G r.(?) p.(His783Arg) Unknown - VUS g.43112285A>G g.43144547A>G - - PTK7_000014 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2348A>G r.(?) p.(His783Arg) Unknown - VUS g.43112285A>G g.43144547A>G - - PTK7_000014 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.2420T>C r.(?) p.(Phe807Ser) Unknown - VUS g.43112950T>C g.43145212T>C - - PTK7_000015 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.3128G>T r.(?) p.(Cys1043Phe) Unknown - VUS g.43128534G>T - PTK7(NM_002821.5):c.3128G>T (p.(Cys1043Phe)) - PTK7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3128_3129delinsTT r.(?) p.(Cys1043Phe) Unknown - VUS g.43128534_43128535delinsTT - PTK7(NM_002821.5):c.3128_3129delinsTT (p.(Cys1043Phe)) - PTK7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3178G>A r.(?) p.(Ala1060Thr) Unknown - VUS g.43128584G>A g.43160846G>A - - PTK7_000024 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
?/. - c.3196G>A r.(?) p.(Val1066Met) Unknown - VUS g.43128602G>A g.43160864G>A - - PTK7_000016 - PubMed: Lei 2019, Journal: Lei 2019 - - Unknown - - - - - DNA SEQ-NG-I - - NTD - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - 1 Yunping Lei
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