Full data view for gene TSPAN7

Information The variants shown are described using the NM_004615.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-35_-33del r.(?) p.(=) Maternal (inferred) - VUS g.38420765_38420767del g.38561512_38561514del - - TSPAN7_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-35_-33del r.(?) p.(=) Maternal (inferred) - VUS g.38420765_38420767del g.38561512_38561514del - - TSPAN7_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-15_-13del r.(?) p.(=) Maternal (inferred) - VUS g.38420785_38420787del g.38561532_38561534del - - TSPAN7_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-15_-13del r.(?) p.(=) Maternal (inferred) - VUS g.38420785_38420787del g.38561532_38561534del - - TSPAN7_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.81+107G>C r.(=) p.(=) Maternal (inferred) - VUS g.38420987G>C g.38561734G>C - - TSPAN7_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.81+107G>C r.(=) p.(=) Maternal (inferred) - VUS g.38420987G>C g.38561734G>C - - TSPAN7_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.127dup r.(?) p.(Thr43Asnfs*42) Unknown - likely pathogenic g.38525420dup g.38666166dup - - TSPAN7_000031 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410923 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.169A>G r.(?) p.(Asn57Asp) Unknown - likely benign g.38525462A>G - TSPAN7(NM_004615.3):c.169A>G (p.N57D) - TSPAN7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.270+288del r.(=) p.(=) Maternal (inferred) - VUS g.38525851del g.38666597del - - TSPAN7_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.274G>T r.(?) p.(Ala92Ser) Unknown - likely benign g.38530633G>T g.38671379G>T - - TSPAN7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310G>A r.(?) p.(Val104Ile) Unknown - likely benign g.38530669G>A - TSPAN7(NM_004615.3):c.310G>A (p.V104I) - TSPAN7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429T>C r.(?) p.(His143=) Unknown - likely benign g.38533558T>C - TSPAN7(NM_004615.3):c.429T>C (p.H143=) - TSPAN7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437G>A r.(?) p.(Arg146His) Unknown - likely benign g.38533566G>A - TSPAN7(NM_004615.4):c.437G>A (p.(Arg146His)) - TSPAN7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442-295G>A r.(=) p.(=) Maternal (inferred) - VUS g.38534664G>A g.38675410G>A - - TSPAN7_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.483C>A r.(?) p.(Thr161=) Unknown - likely benign g.38535000C>A - TSPAN7(NM_004615.4):c.483C>A (p.T161=) - TSPAN7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509dup r.(?) p.(Ser173Glnfs*8) Unknown - likely pathogenic g.38535026dup - - - TSPAN7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515C>A r.(?) p.(Pro172His) Unknown - likely benign g.38535032C>A g.38675778C>A TSPAN7(NM_004615.3):c.515C>A (p.P172H) - TSPAN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515C>A r.(?) p.(Pro172His) Unknown - likely benign g.38535032C>A g.38675778C>A TSPAN7(NM_004615.3):c.515C>A (p.P172H) - TSPAN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561C>A r.(?) p.(His187Gln) Unknown - likely benign g.38535078C>A - TSPAN7(NM_004615.3):c.561C>A (p.H187Q) - TSPAN7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+4C>T r.spl? p.? Unknown - likely benign g.38535118C>T g.38675864C>T TSPAN7(NM_004615.3):c.597+4C>T (p.?) - TSPAN7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.597+60A>G r.(=) p.(=) Maternal (inferred) - VUS g.38535174A>G g.38675920A>G - - TSPAN7_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.597+60A>G r.(=) p.(=) Maternal (inferred) - VUS g.38535174A>G g.38675920A>G - - TSPAN7_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.598-8C>T r.(=) p.(=) Unknown - likely benign g.38540450C>T - TSPAN7(NM_004615.3):c.598-8C>T - TSPAN7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670G>A r.(?) p.(Ala224Thr) Unknown - VUS g.38540530G>A - TSPAN7(NM_004615.3):c.670G>A (p.A224T) - TSPAN7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.681+139G>C r.(=) p.(=) Maternal (inferred) - VUS g.38540680G>C g.38681426G>C - - TSPAN7_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.681+139G>C r.(=) p.(=) Maternal (inferred) - VUS g.38540680G>C g.38681426G>C - - TSPAN7_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.682-2del r.spl? p.? Unknown - likely pathogenic g.38546851del - - - TSPAN7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725C>G r.(?) p.(Thr242Arg) Maternal (inferred) ACMG VUS g.38546896C>G - - - TSPAN7_000035 ACMG: PM2_SUP; BP1 PMID 25081361 describes p.T242M in patient with ID - - Germline ? - - - - DNA SEQ-NG-I - - MR;ID 188350 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.726G>A r.(?) p.(Thr242=) Unknown - VUS g.38546897G>A g.38687643G>A TSPAN7(NM_004615.3):c.726G>A (p.T242=) - TSPAN7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745G>A r.(?) p.(Val249Met) Unknown - VUS g.38546916G>A - TSPAN7(NM_004615.3):c.745G>A (p.V249M) - TSPAN7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*123C>A r.(=) p.(=) Maternal (inferred) - VUS g.38547308C>A g.38688054C>A - - TSPAN7_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*123C>A r.(=) p.(=) Maternal (inferred) - VUS g.38547308C>A g.38688054C>A - - TSPAN7_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*677G>A r.(=) p.(=) Maternal (inferred) - VUS g.38547862G>A g.38688608G>A - - TSPAN7_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*677G>A r.(=) p.(=) Maternal (inferred) - VUS g.38547862G>A g.38688608G>A - - TSPAN7_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*898G>A r.(=) p.(=) Maternal (inferred) - VUS g.38548083G>A g.38688829G>A - - TSPAN7_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*898G>A r.(=) p.(=) Maternal (inferred) - VUS g.38548083G>A g.38688829G>A - - TSPAN7_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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