Full data view for gene TSPAN6

Information The variants shown are described using the NM_003270.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.186C>T r.(=) p.(=) Parent #1 - likely benign g.99890645G>A g.100635648G>A F62F - TSPAN6_000005 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.283A>G r.(?) p.(Met95Val) Unknown - likely benign g.99890243T>C g.100635246T>C TSPAN6(NM_001278740.1):c.19A>G (p.M7V) - TSPAN6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322G>A r.(?) p.(Ala108Thr) Parent #1 - VUS g.99890204C>T g.100635207C>T - - TSPAN6_000004 recurrent, found 36 times PubMed: Tarpey 2009 - - Germline - 36/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 36 Lucy Raymond
-?/. - c.426T>C r.(?) p.(His142=) Unknown - likely benign g.99888952A>G g.100633955A>G TSPAN6(NM_001278740.1):c.162T>C (p.H54=) - TSPAN6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.562_563del r.(?) p.(Asp188Cysfs*7) Unknown - VUS g.99888429_99888430del - TSPAN6(NM_001278740.1):c.298_299delGA (p.D100Cfs*7) - TSPAN6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.626T>C r.(?) p.(Met209Thr) Unknown - VUS g.99887525A>G g.100632528A>G TSPAN6(NM_001278740.1):c.362T>C (p.(Met121Thr)) - TSPAN6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703C>T r.(?) p.(Arg235Cys) Parent #1 - VUS g.99885830G>A g.100630833G>A - - TSPAN6_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
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