Unique 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     

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.-129604C>A r.(?) p.(=) - VUS g.28386622G>T g.30059604G>T EFCAB5(NM_198529.3):c.2640G>T (p.K880N) - EFCAB5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-39251A>C r.(?) p.(=) - VUS g.28296269T>G g.29969251T>G EFCAB5(NM_198529.3):c.651T>G (p.Y217*) - EFCAB5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3876C>G r.(?) p.(Phe1292Leu) - pathogenic g.27958255G>C g.29631237G>C - - SSH2_000001 - - - - Germline/De novo (untested) - - - - - Jessada Thutkawkorapin
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