Full data view for gene XPA

Information The variants shown are described using the NM_000380.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-4A>G r.(?) p.(=) Unknown - benign g.100459578T>C g.97697296T>C XPA(NR_027302.2):n.45A>G - XPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16G>A r.(?) p.(Gly6Arg) Unknown - likely benign g.100459559C>T g.97697277C>T XPA(NM_000380.4):c.16G>A (p.G6R) - XPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134C>T r.(?) p.(Ala45Val) Unknown - likely benign g.100459441G>A g.97697159G>A XPA(NM_000380.3):c.134C>T (p.(Ala45Val)) - XPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>T r.(?) p.(Arg46Trp) Unknown - VUS g.100459439G>A g.97697157G>A XPA(NM_000380.3):c.136C>T (p.R46W) - XPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.172+8C>T r.(=) p.(=) Unknown - likely benign g.100459395G>A - XPA(NM_000380.4):c.172+8C>T - XPA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.253C>T r.(?) p.(Gln85*) Both (homozygous) - pathogenic (recessive) g.100455961G>A g.97693679G>A - - XPA_000024 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP111BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - 1 Johan den Dunnen
+/. - c.266_267dup r.(?) p.(Val90LysfsTer15) Unknown - pathogenic g.100455949_100455950dup g.97693667_97693668dup XPA(NM_000380.3):c.266_267dupAA (p.V90Kfs*15), XPA(NM_000380.4):c.266_267dup (p.(Val90Lysfs*15)) - XPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.266_267dup r.(?) p.(Val90Lysfs*15) Both (homozygous) - pathogenic (recessive) g.100455949_100455950dup g.97693667_97693668dup 266_267dupAA - XPA_000011 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP15BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.266_267dup r.(?) p.(Val90LysfsTer15) Unknown - pathogenic g.100455949_100455950dup - XPA(NM_000380.3):c.266_267dupAA (p.V90Kfs*15), XPA(NM_000380.4):c.266_267dup (p.(Val90Lysfs*15)) - XPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.283G>A r.(?) p.(Gly95Arg) Unknown - likely pathogenic g.100455931C>T g.97693649C>T XPA(NM_000380.3):c.283G>A(p.G95R)/c.631C>T(p.R211*) - XPA_000019 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 171 - - - DNA SEQ-NG-I blood - ? WHP71 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.314G>A r.(?) p.(Cys105Tyr) Both (homozygous) - pathogenic (recessive) g.100451891C>T g.97689609C>T - - XPA_000023 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP80BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - 1 Johan den Dunnen
+/. - c.314G>A r.(?) p.(Cys105Tyr) Both (homozygous) - pathogenic (recessive) g.100451891C>T g.97689609C>T - - XPA_000023 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP81BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - 1 Johan den Dunnen
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.100451889C>T - XPA(NM_000380.4):c.316G>A (p.(Glu106Lys)) - XPA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.331G>T r.(?) p.(Glu111*) Both (homozygous) ACMG pathogenic g.100451874C>A - - - XPA_000014 - - - - Germline - - - - - DNA SEQ-NG - - XPA - - - - - - - - - - - 1 Anju Shukla
+/. - c.474_477del r.(?) p.(Arg158SerfsTer8) Unknown - pathogenic g.100449458_100449461del - XPA(NM_001354975.1):c.348_351delAGAG (p.R116Sfs*8) - XPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.555+8A>G r.spl p.(=) Both (homozygous) - pathogenic g.100449370T>C g.97687088T>C - - XPA_000001 - - - - Germline - - - - - DNA SEQ - - MINAS - - - M - India - - - - - 1 James Whitworth
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP9BI PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP103BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP53BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP116BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) India - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP2PR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP89BR-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP1PR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP88BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP89BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.555+8A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP1CB PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) India - - - - 1 Johan den Dunnen
+/. 4i c.555+8A>G r.[555_556ins55+1_555+7;=|0.05] p.[Ile184Valfs*9,=] Both (homozygous) - pathogenic (recessive) g.100449370T>C g.97687088T>C - - XPA_000001 - PubMed: Sidwell 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XP patientXP40BR PubMed: Sidwell 2006 2-generation family, 1 affected, unaffected heterozygous parents (first cousin) F yes United Kingdom (Great Britain) India;Punjab - - - - 1 Johan den Dunnen
+/. - c.573del r.(?) p.(Glu192LysfsTer9) Unknown - pathogenic g.100447306del g.97685024del XPA(NM_000380.3):c.573delT (p.E192Kfs*9) - XPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.601_605del r.(?) p.(Glu201Serfs*18) Unknown - pathogenic g.100447274_100447278del - - - XPA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.619C>T r.(?) p.(Arg207*) Unknown - pathogenic g.100447259G>A - XPA(NM_000380.3):c.619C>T (p.(Arg207*)) - XPA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.631C>T r.(?) p.(Arg211*) Unknown - likely pathogenic g.100447247G>A g.97684965G>A XPA(NM_000380.3):c.283G>A(p.G95R)/c.631C>T(p.R211*) - XPA_000018 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 171 - - - DNA SEQ-NG-I blood - ? WHP71 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.640dup r.(?) p.(Met214Asnfs*7) Both (homozygous) - pathogenic (recessive) g.100447243dup g.97684961dup 640dupA - XPA_000022 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP57BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - 1 Johan den Dunnen
+/. - c.648_649del r.(?) p.(Lys217Glufs*3) Both (homozygous) - pathogenic (recessive) g.100447230_100447231del g.97684948_97684949del 648_649delGA - XPA_000021 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP54PV PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.648_649del r.(?) p.(Lys217Glufs*3) Unknown - pathogenic g.100447230_100447231del - XPA(NM_000380.4):c.648_649delGA (p.K217Efs*3) - XPA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.673+19T>C r.(=) p.(=) Unknown - likely benign g.100447186A>G g.97684904A>G XPA(NM_000380.4):c.673+19T>C - XPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674-4dup r.spl? p.? Unknown - likely benign g.100437881dup - XPA(NM_001354975.1):c.548-4dupT - NCBP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.682C>T r.(?) p.(Arg228*) Both (homozygous) - pathogenic (recessive) g.100437861G>A g.97675579G>A - - XPA_000020 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP114BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.682C>T r.(?) p.(Arg228*) Both (homozygous) - pathogenic (recessive) g.100437861G>A g.97675579G>A - - XPA_000020 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP20BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+?/. - c.731A>G r.(?) p.(His244Arg) Unknown - likely pathogenic g.100437812T>C g.97675530T>C XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R) - XPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731A>G r.(?) p.(His244Arg) Unknown - VUS g.100437812T>C g.97675530T>C XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R) - XPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.731A>G r.(?) p.(His244Arg) Unknown - likely pathogenic g.100437812T>C g.97675530T>C XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R) - XPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731A>G r.731A>G p.His244Arg Unknown - VUS g.100437812T>C g.97675530T>C NM_001354975.1:c.605A>G - XPA_000009 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-/. - c.766A>G r.(?) p.(Met256Val) Unknown - benign g.100437777T>C g.97675495T>C XPA(NM_000380.4):c.766A>G (p.M256V) - NCBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.772_785del r.(?) p.(Arg258Tyrfs*5) Unknown - likely pathogenic g.100437763_100437776del - - - NCBP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.774dup r.(?) p.(Lys259Ter) Unknown - likely pathogenic g.100437769dup g.97675487dup XPA(NM_000380.3):c.774dupT (p.K259*) - NCBP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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