All variants in the SKIDA1 gene

Information The variants shown are described using the NM_207371.3 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.-128255C>T r.(?) p.(=) - likely benign g.21940613G>A g.21651684G>A MLLT10(NM_004641.3):c.711G>A (p.E237=) - MLLT10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-93777T>C r.(?) p.(=) - likely benign g.21906135A>G g.21617206A>G MLLT10(NM_004641.3):c.698A>G (p.K233R) - MLLT10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-93695G>A r.(?) p.(=) - VUS g.21906053C>T - MLLT10(NM_004641.3):c.616C>T (p.R206W) - MLLT10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-33303G>T r.(?) p.(=) - likely benign g.21845661C>A g.21556732C>A MLLT10(NM_001195630.1):c.330C>A (p.P110=) - MLLT10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-15438C>T r.(?) p.(=) - benign g.21827796G>A g.21538867G>A MLLT10(NM_004641.4):c.195G>A (p.P65=) - MLLT10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.419G>T r.(?) p.(Arg140Leu) - likely benign g.21806333C>A - SKIDA1(NM_207371.3):c.419G>T (p.(Arg140Leu)) - SKIDA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.529C>T r.(?) p.(Pro177Ser) - likely benign g.21806223G>A - SKIDA1(NM_207371.3):c.529C>T (p.(Pro177Ser)) - SKIDA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.690_698del r.(?) p.(Ala242_Ala244del) - VUS g.21806071_21806079del - SKIDA1(NM_207371.3):c.690_698delCGCCGCCGC (p.A242_A244del) - SKIDA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.748G>A r.(?) p.(Ala250Thr) - likely benign g.21806004C>T - SKIDA1(NM_207371.3):c.748G>A (p.(Ala250Thr)) - SKIDA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.933A>G r.(?) p.(Ala311=) - likely benign g.21805819T>C - SKIDA1(NM_207371.3):c.933A>G (p.A311=) - SKIDA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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