Unique variants in the TEX13A gene

Information The variants shown are described using the NM_031274.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-545778G>C r.(?) p.(=) - VUS g.105011024C>G g.105767031C>G - - IL1RAPL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-519371C>T r.(?) p.(=) - likely benign g.104984617G>A g.105740624G>A IL1RAPL2(NM_017416.1):c.981G>A (p.A327=) - IL1RAPL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-519341G>T r.(?) p.(=) - likely benign g.104984587C>A - IL1RAPL2(NM_017416.1):c.951C>A (p.I317=) - IL1RAPL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.193G>A r.(?) p.(Glu65Lys) - VUS g.104464889C>T - TEX13A(NM_031274.4):c.193G>A (p.E65K) - IL1RAPL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.422A>G r.(?) p.(Lys141Arg) - likely benign g.104464660T>C g.105219976T>C TEX13A(NM_031274.3):c.422A>G (p.(Lys141Arg)) - IL1RAPL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.536A>T r.(?) p.(Glu179Val) - likely benign g.104464342T>A g.105219658T>A TEX13A(NM_031274.3):c.536A>T (p.(Glu179Val)) - IL1RAPL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.597del - p.? - VUS g.104464281del - - - IL1RAPL2_000002 1 more item - - - Germline - - - - - Yu Sun
?/. 1 - c.602del - p.? - VUS g.104464276del - - - IL1RAPL2_000001 1 more item - - - Germline - - - - - Yu Sun
-?/. 1 - c.694G>T r.(?) p.(Ala232Ser) - likely benign g.104464182C>A - TEX13A(NM_031274.4):c.694G>T (p.A232S) - IL1RAPL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.810C>G r.(?) p.(Val270=) - VUS g.104464066G>C - TEX13A(NM_031274.3):c.812C>G (p.(Ser271Trp)) - IL1RAPL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*23385T>C r.(=) p.(=) - VUS g.104440261A>G - IL1RAPL2(NM_017416.1):c.187A>G (p.N63D) - IL1RAPL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*560036G>A r.(=) p.(=) - likely benign g.103903610C>T g.104658929C>T IL1RAPL2(NM_017416.1):c.16C>T (p.L6F) - IL1RAPL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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