All transcript variants in gene ALX3

Information The variants shown are described using the NM_006492.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.155C>T r.(?) p.(Pro52Leu) - likely benign g.110613080G>A g.110070458G>A ALX3(NM_006492.3):c.155C>T (p.P52L) - ALX3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.160T>A r.(?) p.(Cys54Ser) - likely benign g.110613075A>T g.110070453A>T ALX3(NM_006492.2):c.160T>A (p.(Cys54Ser)) - ALX3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.161_182del r.(?) p.(Cys54SerfsTer132) - VUS g.110613056_110613077del g.110070434_110070455del ALX3(NM_006492.2):c.161_182del (p.?) - ALX3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.176C>T r.(?) p.(Pro59Leu) - VUS g.110613059G>A g.110070437G>A ALX3(NM_006492.2):c.176C>T (p.(Pro59Leu)) - ALX3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.228del r.(?) p.(Gly78AlafsTer115) - pathogenic g.110613009del g.110070387del ALX3(NM_006492.3):c.228delG (p.G78Afs*115) - ALX3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.265G>A r.(?) p.(Gly89Ser) - VUS g.110612970C>T g.110070348C>T ALX3(NM_006492.3):c.265G>A (p.G89S) - ALX3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.277+49_277+51del r.(=) p.(=) - benign g.110612915_110612917del g.110070293_110070295del ALX3(NM_006492.3):c.277+49_277+51delTTC - ALX3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.278-6T>C r.(=) p.(=) - likely benign g.110607531A>G g.110064909A>G ALX3(NM_006492.3):c.278-6T>C - ALX3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.283_285del r.(?) p.(Glu95del) - VUS g.110607521_110607523del g.110064899_110064901del ALX3(NM_006492.3):c.283_285delGAG (p.E95del) - ALX3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.414G>A r.(?) p.(Pro138=) - likely benign g.110607389C>T g.110064767C>T ALX3(NM_006492.3):c.414G>A (p.P138=) - ALX3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.578_581del r.(?) p.(Thr193ArgfsTer137) - pathogenic g.110607226_110607229del g.110064604_110064607del ALX3(NM_006492.3):c.578_581delCTGA (p.T193Rfs*137) - ALX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.637C>T r.(?) p.(Arg213Cys) - VUS g.110604143G>A g.110061521G>A ALX3(NM_006492.3):c.637C>T (p.R213C) - ALX3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.723+1G>C r.spl? p.? - pathogenic g.110604056C>G g.110061434C>G ALX3(NM_006492.3):c.723+1G>C - ALX3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.724-8_724-7del r.(=) p.(=) - likely benign g.110603674_110603675del - ALX3(NM_006492.2):c.724-8_724-7del (p.(=)) - ALX3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.959A>G r.(?) p.(Tyr320Cys) - VUS g.110603428T>C g.110060806T>C ALX3(NM_006492.3):c.959A>G (p.Y320C) - ALX3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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