Unique variants in gene SH2D7

Information The variants shown are described using the NM_001101404.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.670C>A r.(?) p.(Pro224Thr) - VUS g.78393265C>A g.78100923C>A SH2D7(NM_001101404.1):c.670C>A (p.(Pro224Thr)) - SH2D7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.757C>T r.(?) p.(Arg253Trp) - likely benign g.78393352C>T g.78101010C>T SH2D7(NM_001101404.1):c.757C>T (p.(Arg253Trp)) - SH2D7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.839C>T r.(?) p.(Ala280Val) - likely benign g.78393434C>T g.78101092C>T SH2D7(NM_001101404.1):c.839C>T (p.(Ala280Val)) - SH2D7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*2243T>G r.(=) p.(=) - VUS g.78398100T>G g.78105758T>G CIB2(NM_006383.3):c.523A>C (p.K175Q) - SH2D7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.*2293A>C r.(=) p.(=) - VUS g.78398150A>C g.78105808A>C CIB2(NM_001301224.1):c.488T>G (p.L163W) - SH2D7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2304C>T r.(=) p.(=) - likely benign g.78398161C>T g.78105819C>T CIB2(NM_001301224.1):c.477G>A (p.E159=) - SH2D7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2318C>T r.(=) p.(=) - VUS g.78398175C>T g.78105833C>T CIB2(NM_001301224.1):c.463G>A (p.D155N) - SH2D7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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