Full data view for gene SRPK3

Information The variants shown are described using the NM_014370.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-335736_*558931dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
-?/. - c.-4981C>T r.(?) p.(=) Unknown - likely benign g.153041561C>T - PLXNB3(NM_005393.3):c.4621C>T (p.(Arg1541Trp)) - SRPK3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4204C>T r.(?) p.(=) Unknown - VUS g.153042338C>T g.153776883C>T PLXNB3(NM_001163257.1):c.4903-4C>T (p.?), PLXNB3(NM_005393.3):c.4834-4C>T - PLXNB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4204C>T r.(?) p.(=) Unknown - likely benign g.153042338C>T - PLXNB3(NM_001163257.1):c.4903-4C>T (p.?), PLXNB3(NM_005393.3):c.4834-4C>T - PLXNB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4108G>C r.(?) p.(=) Unknown - VUS g.153042434G>C g.153776979G>C PLXNB3(NM_001163257.1):c.4995G>C (p.E1665D) - SRPK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3856G>A r.(?) p.(=) Unknown - likely benign g.153042686G>A g.153777231G>A PLXNB3(NM_005393.3):c.4951G>A (p.(Glu1651Lys)) - PLXNB3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3844dup r.(?) p.(=) Unknown - VUS g.153042698dup g.153777243dup PLXNB3(NM_001163257.1):c.5024_5025insG (p.(Val1678GlyfsTer76)) - PLXNB3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3535G>A r.(?) p.(=) Unknown - VUS g.153043007G>A - PLXNB3(NM_001163257.1):c.5194G>A (p.D1732N) - SRPK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3092T>A r.(?) p.(=) Unknown - VUS g.153043450T>A - PLXNB3(NM_001163257.1):c.5378T>A (p.I1793N) - SRPK3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3042G>A r.(?) p.(=) Unknown - VUS g.153043500G>A g.153778045G>A PLXNB3(NM_001163257.1):c.5428G>A (p.A1810T) - PLXNB3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3011C>T r.(?) p.(=) Unknown - VUS g.153043531C>T g.153778076C>T PLXNB3(NM_001163257.1):c.5459C>T (p.S1820L) - PLXNB3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2675C>T r.(?) p.(=) Unknown - likely benign g.153043867C>T g.153778412C>T PLXNB3(NM_005393.3):c.5491C>T (p.(Arg1831Cys)) - SRPK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2429A>G r.(?) p.(=) Unknown - VUS g.153044113A>G g.153778658A>G PLXNB3(NM_001163257.1):c.5678A>G (p.H1893R) - PLXNB3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2071G>A r.(?) p.(=) Unknown - VUS g.153044471G>A g.153779016G>A PLXNB3(NM_001163257.1):c.5776G>A (p.E1926K) - PLXNB3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>T r.(?) p.(Ser50=) Unknown - likely benign g.153046761C>T - SRPK3(NM_014370.3):c.150C>T (p.S50=) - SRPK3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203C>T r.(?) p.(Pro68Leu) Unknown - VUS g.153046972C>T - SRPK3(NM_014370.3):c.203C>T (p.P68L) - SRPK3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.280T>G r.(?) p.(Trp94Gly) Unknown - likely pathogenic g.153047049T>G - - - SRPK3_000040 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280T>G r.(?) p.(Trp94Gly) Unknown - VUS g.153047049T>G - - - SRPK3_000040 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299+5G>C r.spl? p.? Unknown - VUS g.153047073G>C g.153781618G>C - - SRPK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>A r.(?) p.(Gly114Glu) Unknown - likely benign g.153047239G>A g.153781784G>A SRPK3(NM_001170760.1):c.341G>A (p.(Gly114Glu)) - SRPK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.341G>A r.(?) p.(Gly114Glu) Parent #1 - VUS g.153047239G>A g.153781784G>A G114E - SRPK3_000009 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.350C>T r.(?) p.(Thr117Met) Unknown - VUS g.153047248C>T g.153781793C>T SRPK3(NM_014370.3):c.350C>T (p.T117M) - SRPK3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.387T>G r.(?) p.(Cys129Trp) Unknown - VUS g.153047285T>G g.153781830T>G SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp)) - SRPK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.387T>G r.(?) p.(Cys129Trp) Unknown - VUS g.153047285T>G - SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp)) - SRPK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.475C>G r.(?) p.(His159Asp) Maternal (confirmed) - pathogenic g.153047663C>G g.153782208C>G - - SRPK3_000044 - PubMed: Roychaudhury 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Fam1PatII1 PubMed: Roychaudhury 2024 3-generation family, 5 affected (5M), 5 unaffected carrier females M - Canada - - - - - 5 Johan den Dunnen
+/. - c.475C>G r.(?) p.(His159Asp) Maternal (confirmed) - pathogenic g.153047663C>G g.153782208C>G - - SRPK3_000044 - PubMed: Roychaudhury 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Fam1PatIII3 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - 1 Johan den Dunnen
+/. - c.475C>G r.(?) p.(His159Asp) Maternal (confirmed) - pathogenic g.153047663C>G g.153782208C>G - - SRPK3_000044 - PubMed: Roychaudhury 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Fam1PatIII4 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - 1 Johan den Dunnen
+/. - c.475C>G r.(?) p.(His159Asp) Maternal (confirmed) - pathogenic g.153047663C>G g.153782208C>G - - SRPK3_000044 - PubMed: Roychaudhury 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Fam1PatIII5 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - 1 Johan den Dunnen
+/. - c.475C>G r.(?) p.(His159Asp) Maternal (confirmed) - pathogenic g.153047663C>G g.153782208C>G - - SRPK3_000044 - PubMed: Roychaudhury 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Fam1PatIII7 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - 1 Johan den Dunnen
?/. - c.475C>T r.(?) p.(His159Tyr) Unknown - VUS g.153047663C>T g.153782208C>T SRPK3(NM_014370.3):c.475C>T (p.H159Y) - SRPK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475+146A>G r.(=) p.(=) Maternal (inferred) - VUS g.153047809A>G g.153782354A>G - - SRPK3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.475+146A>G r.(=) p.(=) Maternal (inferred) - VUS g.153047809A>G g.153782354A>G - - SRPK3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.749-34del r.(=) p.(=) Maternal (inferred) - VUS g.153048647del g.153783192del - - SRPK3_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.749-34del r.(=) p.(=) Maternal (inferred) - VUS g.153048647del g.153783192del - - SRPK3_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.749-33del r.(=) p.(=) Unknown - VUS g.153048648del g.153783193del - - SRPK3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.749-33_749-32del r.(=) p.(=) Unknown - VUS g.153048648_153048649del g.153783193_153783194del - - SRPK3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.907+5G>C r.spl? p.? Unknown - VUS g.153049344G>C - - - SRPK3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.953C>T r.(?) p.(Ser318Leu) Maternal (confirmed) - pathogenic g.153049474C>T g.153784019C>T - - SRPK3_000045 - PubMed: Roychaudhury 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam4 PubMed: Roychaudhury 2024 patient M - Italy - - - - - 1 Johan den Dunnen
-?/. - c.1055G>C r.(?) p.(Gly352Ala) Unknown - likely benign g.153049576G>C - SRPK3(NM_014370.3):c.1055G>C (p.(Gly352Ala)) - SRPK3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249-46_1249-42del r.(=) p.(=) Both (homozygous) - likely benign g.153050159_153050163del g.153784704_153784708del SRPK3 1_5delGACAG (Thr2LeufsTer57) - SRPK3_000038 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
?/. - c.1249-46_1249-42del r.(=) p.(=) Both (homozygous) - likely benign g.153050159_153050163del g.153784704_153784708del SRPK3 1_5delGACAG (Thr2LeufsTer57) - SRPK3_000038 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - 1 Johan den Dunnen
?/. - c.1289G>A r.(?) p.(Arg430Gln) Unknown - VUS g.153050245G>A g.153784790G>A - - SRPK3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1373C>A r.(?) p.(Thr458Asn) Maternal (confirmed) - pathogenic g.153050405C>A g.153784950C>A - - SRPK3_000046 - PubMed: Roychaudhury 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam2 PubMed: Roychaudhury 2024 3-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. 13 c.1402G>T r.(?) p.(Gly468*) Maternal (confirmed) - VUS g.153050434G>T g.153784979G>T - - SRPK3_000036 - PubMed: Pelin 2023 - - Germline ? - - - - DNA, RNA arrayCGH, RT-PCR, SEQ, SEQ-NG - - CMYO4B - PubMed: Pelin 2023 - M no Finland - <05y - - - 1 Lydia Sagath
+/. - c.1413_1414del r.(?) p.(Tyr471Ter) Maternal (confirmed) - pathogenic g.153050445_153050446del g.153784990_153784991del - - SRPK3_000047 - PubMed: Roychaudhury 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam5 PubMed: Roychaudhury 2024 patient M - Guatemala Hispanic <1m - - - 1 Johan den Dunnen
-?/. - c.1434C>G r.(?) p.(Ile478Met) Unknown - likely benign g.153050543C>G - SRPK3(NM_014370.3):c.1434C>G (p.(Ile478Met)) - SRPK3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1459G>A r.(?) p.(Asp487Asn) Unknown - VUS g.153050568G>A - SRPK3(NM_014370.3):c.1459G>A (p.D487N) - SRPK3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585G>A r.(?) p.(Glu529Lys) Unknown - VUS g.153050856G>A g.153785401G>A SRPK3(NM_014370.3):c.1585G>A (p.E529K) - SRPK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1585G>A r.(?) p.(Glu529Lys) Maternal (confirmed) - pathogenic g.153050856G>A g.153785401G>A - - SRPK3_000011 - PubMed: Roychaudhury 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam3PatIII1 PubMed: Roychaudhury 2024 3-generation family, 2 affected (boy, maternal uncle), unaffected carrier mother M - United States - - - - - 2 Johan den Dunnen
-?/. - c.1617C>T r.(?) p.(Ser539=) Unknown - likely benign g.153050888C>T - SRPK3(NM_014370.3):c.1617C>T (p.S539=) - SRPK3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*417A>G r.(=) p.(=) Unknown - VUS g.153051392A>G g.153785937A>G IDH3G(NM_004135.4):c.1117T>C (p.S373P) - SRPK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*438T>C r.(=) p.(=) Unknown - VUS g.153051413T>C g.153785958T>C IDH3G(NM_004135.3):c.1096A>G (p.(Ile366Val)) - IDH3G_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*728G>A r.(=) p.(=) Unknown - likely benign g.153051703G>A - IDH3G(NM_174869.2):c.1044C>T (p.I348=) - SRPK3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*863C>T r.(=) p.(=) Unknown - VUS g.153051838C>T - IDH3G(NM_004135.3):c.991G>A (p.(Ala331Thr)) - SRPK3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*902C>T r.(=) p.(=) Unknown - VUS g.153051877C>T - IDH3G(NM_004135.3):c.952G>A (p.(Ala318Thr)) - SRPK3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1302A>G r.(=) p.(=) Unknown - likely benign g.153052277A>G - IDH3G(NM_174869.2):c.903T>C (p.H301=) - SRPK3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1368G>A r.(=) p.(=) Unknown - likely benign g.153052343G>A - IDH3G(NM_174869.2):c.837C>T (p.I279=) - SRPK3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1432G>A r.(=) p.(=) Unknown - VUS g.153052407G>A g.153786952G>A IDH3G(NM_004135.3):c.778-5C>T (p.?) - IDH3G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1584G>A r.(=) p.(=) Unknown - VUS g.153052559G>A g.153787104G>A IDH3G(NM_174869.2):c.724C>T (p.R242C) - IDH3G_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2383C>T r.(=) p.(=) Unknown - VUS g.153053358C>T g.153787903C>T IDH3G(NM_174869.2):c.460G>A (p.V154M) - SRPK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4696A>C r.(=) p.(=) Unknown - likely benign g.153055671A>C g.153790216A>C IDH3G(NM_004135.3):c.212T>G (p.(Leu71Arg)) - SRPK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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