All transcript variants in gene SSH2

Information The variants shown are described using the NM_033389.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. - c.-129604C>A VUS r.(?) p.(=) g.28386622G>T - EFCAB5(NM_198529.3):c.2640G>T (p.K880N) - EFCAB5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-39251A>C VUS r.(?) p.(=) g.28296269T>G - EFCAB5(NM_198529.3):c.651T>G (p.Y217*) - EFCAB5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.3876C>G - r.(?) p.(Phe1292Leu) g.27958255G>C - - - SSH2_000001 - - - - Germline/De novo (untested) - - - 0 - Jessada Thutkawkorapin
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