Unique variants in the SSX3 gene

Information The variants shown are described using the NM_021014.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.53C>T r.(?) p.(Pro18Leu) - likely benign g.48214632G>A g.48355197G>A SSX3(NM_021014.3):c.53C>T (p.P18L) - SSX3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.70-6_70-5del r.spl? p.? - benign g.48214198_48214199del g.48354763_48354764del SSX3(NM_021014.3):c.70-6_70-5delTT - SSX3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.70-5dup r.spl? p.(=), p.? - likely benign, VUS g.48214199dup g.48354764dup SSX3(NM_021014.3):c.70-5dupT (p.?) - SSX3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Leiden
?/. 1 5 c.403G>A r.(?) D135N - VUS g.48209485C>T g.48350050C>T D135N - SSX3_000015 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.459G>A r.(?) p.(Met153Ile) - likely benign g.48209429C>T g.48349994C>T SSX3(NM_021014.3):c.459G>A (p.(Met153Ile)) - SSX3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.467-271T>G r.(=) p.(=) - VUS g.48207310A>C g.48347875A>C - - SSX3_000002 - - - - Germline - - - - - Yu Sun
?/. 2 - c.467-270T>G r.(=) p.(=) - VUS g.48207309A>C g.48347874A>C - - SSX3_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.477G>T r.(?) p.(Arg159Ser) - likely benign g.48207029C>A g.48347594C>A SSX3(NM_021014.3):c.477G>T (p.R159S) - SSX3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.479G>C r.(?) p.(Gly160Ala) - likely benign g.48207027C>G g.48347592C>G SSX3(NM_021014.3):c.479G>C (p.(Gly160Ala)) - SSX3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*4+24C>T r.(=) p.(=) - VUS g.48206911G>A g.48347476G>A - - SSX3_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*453G>C r.(=) p.(=) - VUS g.48206022C>G g.48346587C>G - - SSX3_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*453_*454del r.(=) p.(=) - VUS g.48206022_48206023del g.48346587_48346588del - - SSX3_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*460_*461del r.(=) p.(=) - VUS g.48206020_48206021del g.48346585_48346586del - - SSX3_000013 - - - - Germline - - - - - Yu Sun
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