All variants in the SS18L1 gene

Information The variants shown are described using the NM_198935.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

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     
?/. - c.-4690C>G r.(?) p.(=) - VUS g.60714187C>G g.62139131C>G PSMA7(NM_002792.3):c.415G>C (p.(Asp139His)) - LSM14B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.147-19C>G r.(=) p.(=) - benign g.60734914C>G g.62159858C>G SS18L1(NM_001301778.2):c.-167-19C>G - SS18L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.377-17C>T r.(=) p.(=) - benign g.60737791C>T g.62162735C>T SS18L1(NM_001301778.2):c.-17-17C>T - SS18L1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.477G>A r.(?) p.(Ser159=) - benign g.60737908G>A g.62162852G>A SS18L1(NM_001301778.2):c.84G>A (p.S28=) - SS18L1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.556+8_556+10dup r.(=) p.(=) - benign g.60737995_60737997dup g.62162939_62162941dup SS18L1(NM_001301778.2):c.163+10_163+12dupCCT - SS18L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.609C>T r.(?) p.(Gly203=) - benign g.60738566C>T g.62163510C>T SS18L1(NM_001301778.2):c.216C>T (p.G72=) - SS18L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.663C>T r.(?) p.(Ser221=) - benign g.60738620C>T g.62163564C>T SS18L1(NM_001301778.2):c.270C>T (p.S90=) - SS18L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.916+15_916+16del r.(=) p.(=) - benign g.60740585_60740586del g.62165529_62165530del SS18L1(NM_001301778.2):c.523+15_523+16delTG - SS18L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.916+19_916+31del r.(=) p.(=) - benign g.60740589_60740601del g.62165533_62165545del SS18L1(NM_001301778.2):c.523+19_523+31delTGCTGGGCTCGAG - SS18L1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1036G>A r.(?) p.(Gly346Arg) - VUS g.60747857G>A g.62172801G>A SS18L1(NM_198935.1):c.1036G>A (p.(Gly346Arg)) - SS18L1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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