Full data view for gene TEX13A

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

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

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.-545778G>C r.(?) p.(=) Unknown - VUS g.105011024C>G g.105767031C>G - - IL1RAPL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-519371C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-519341G>T r.(?) p.(=) Unknown - likely benign g.104984587C>A - IL1RAPL2(NM_017416.1):c.951C>A (p.I317=) - IL1RAPL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193G>A r.(?) p.(Glu65Lys) Unknown - VUS g.104464889C>T - TEX13A(NM_031274.4):c.193G>A (p.E65K) - IL1RAPL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422A>G r.(?) p.(Lys141Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536A>T r.(?) p.(Glu179Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.597del - p.? Maternal (inferred) - VUS g.104464281del - - - IL1RAPL2_000002 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.602del - p.? Maternal (inferred) - VUS g.104464276del - - - IL1RAPL2_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.694G>T r.(?) p.(Ala232Ser) Unknown - likely benign g.104464182C>A - TEX13A(NM_031274.4):c.694G>T (p.A232S) - IL1RAPL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.810C>G r.(?) p.(Val270=) Unknown - VUS g.104464066G>C - TEX13A(NM_031274.3):c.812C>G (p.(Ser271Trp)) - IL1RAPL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*23385T>C r.(=) p.(=) Unknown - VUS g.104440261A>G - IL1RAPL2(NM_017416.1):c.187A>G (p.N63D) - IL1RAPL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*560036G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query