Unique variants in gene ALX3

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.155C>T likely benign r.(?) p.(Pro52Leu) g.110613080G>A - ALX3(NM_006492.3):c.155C>T (p.P52L) - ALX3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.160T>A likely benign r.(?) p.(Cys54Ser) g.110613075A>T - ALX3(NM_006492.2):c.160T>A (p.(Cys54Ser)) - ALX3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.161_182del VUS r.(?) p.(Cys54Serfs*132) g.110613056_110613077del - ALX3(NM_006492.2):c.161_182del (p.?) - ALX3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.176C>T VUS r.(?) p.(Pro59Leu) g.110613059G>A - ALX3(NM_006492.2):c.176C>T (p.(Pro59Leu)) - ALX3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.228del pathogenic r.(?) p.(Gly78Alafs*115) g.110613009del - ALX3(NM_006492.3):c.228delG (p.G78Afs*115) - ALX3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.265G>A VUS r.(?) p.(Gly89Ser) g.110612970C>T - ALX3(NM_006492.3):c.265G>A (p.G89S) - ALX3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.277+49_277+51del benign r.(=) p.(=) g.110612915_110612917del - ALX3(NM_006492.3):c.277+49_277+51delTTC - ALX3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.278-6T>C likely benign r.(=) p.(=) g.110607531A>G - ALX3(NM_006492.3):c.278-6T>C - ALX3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.283_285del VUS r.(?) p.(Glu95del) g.110607521_110607523del - ALX3(NM_006492.3):c.283_285delGAG (p.E95del) - ALX3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.414G>A likely benign r.(?) p.(=) g.110607389C>T - ALX3(NM_006492.3):c.414G>A (p.P138=) - ALX3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.578_581del pathogenic r.(?) p.(Thr193Argfs*137) g.110607226_110607229del - ALX3(NM_006492.3):c.578_581delCTGA (p.T193Rfs*137) - ALX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.637C>T VUS r.(?) p.(Arg213Cys) g.110604143G>A - ALX3(NM_006492.3):c.637C>T (p.R213C) - ALX3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.723+1G>C pathogenic r.spl? p.? g.110604056C>G - ALX3(NM_006492.3):c.723+1G>C - ALX3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.959A>G VUS r.(?) p.(Tyr320Cys) g.110603428T>C - ALX3(NM_006492.3):c.959A>G (p.Y320C) - ALX3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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