Unique variants in the SSX5 gene

Information The variants shown are described using the NM_021015.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
?/. 2 - c.-43G>C r.(?) p.(=) - VUS g.48056189C>G g.48196753C>G - - SSX5_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.55G>C r.(?) p.(Glu19Gln) - VUS g.48054740C>G g.48195304C>G - - SSX5_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.60G>T r.(?) p.(Lys20Asn) - likely benign g.48054735C>A g.48195299C>A SSX5(NM_021015.3):c.60G>T (p.(Lys20Asn)) - SSX5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.94C>T r.(?) p.(Arg32Cys) - likely benign g.48054541G>A g.48195105G>A SSX5(NM_021015.3):c.94C>T (p.R32C) - SSX5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.122C>T r.(?) p.(Pro41Leu) - likely benign g.48054513G>A g.48195077G>A SSX5(NM_021015.3):c.122C>T (p.P41L) - SSX5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.194C>T r.(?) p.(Ala65Val) - likely benign g.48054289G>A g.48194853G>A SSX5(NM_021015.3):c.194C>T (p.(Ala65Val)) - SSX5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.260T>A r.(?) p.(Ile87Asn) - VUS g.48054223A>T g.48194787A>T SSX5(NM_021015.3):c.260T>A (p.(Ile87Asn)) - SSX5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.308-202del r.(=) p.(=) - VUS g.48053862del g.48194426del - - SSX5_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.308-190del r.(=) p.(=) - VUS g.48053861del g.48194425del - - SSX5_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.308-189del r.(=) p.(=) - VUS g.48053849del g.48194413del - - SSX5_000030 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.328C>G r.(?) p.(Pro110Ala) - likely benign g.48053640G>C - SSX5(NM_021015.3):c.328C>G (p.P110A) - SSX5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.403+44A>G r.(=) p.(=) - VUS g.48053521T>C g.48194085T>C - - SSX5_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.403+137G>T r.(=) p.(=) - VUS g.48053428C>A g.48193992C>A - - SSX5_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.403+218G>A r.(=) p.(=) - VUS g.48053347C>T g.48193911C>T - - SSX5_000028 - - - - Germline - - - - - Yu Sun
?/. 1 - c.439G>A r.(?) p.(Gly147Arg) - VUS g.48051682C>T g.48192246C>T SSX5(NM_021015.3):c.439G>A (p.G147R) - SSX5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.492G>A r.(?) p.(=) - VUS g.48049666C>T g.48190230C>T - - SSX5_000025 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.522G>A r.(=) p.(=) - likely benign g.48049636C>T g.48190200C>T Q174Q - SSX5_000035 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - Lucy Raymond
?/. 1 - c.541C>T r.(?) p.(Arg181Cys) - VUS g.48049617G>A g.48190181G>A - - SSX5_000034 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 - c.553A>T r.(?) p.(Lys185Ter) - VUS g.48049605T>A g.48190169T>A SSX5(NM_021015.3):c.553A>T (p.(Lys185Ter)) - SSX5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.661A>G r.(?) p.(Ile221Val) - VUS g.48047096T>C g.48187660T>C SSX5(NM_021015.3):c.661A>G (p.I221V) - SSX5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*5-373T>C r.(=) p.(=) - VUS g.48046665A>G g.48187229A>G - - SSX5_000022 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*265A>G r.(=) p.(=) - VUS g.48046032T>C g.48186596T>C - - SSX5_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*492_*495del r.(=) p.(=) - VUS g.48045837_48045840del g.48186401_48186404del - - SSX5_000017 - - - - Germline - - - - - Yu Sun
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