Full data view for gene ACP5

Information The variants shown are described using the NM_001111035.1 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_7_ c.(?_-303)_(*350_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_11501240)_(11770437_?)del - 11,543,542-11,558,411del - ACP5_000008 complete gene deletion, 35 SNPs in a 270 kb segment between rs4804628 and rs318699 PubMed: Briggs 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SPENCDI - PubMed: Briggs 2011 - F - France - - - - - 1 Marcin Szynkiewicz
+/. _1_7_ c.(?_-303)_(*350_?)del r.spl? p.? Both (homozygous) - pathogenic g.(?_11685475)_(11689801_?)del - 11,543,690-11,548,656del - ACP5_000009 full gene deletion PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 consanguineous parents (uncle-niece) M yes India - - - - - 1 Marcin Szynkiewicz
-?/. - c.15G>A r.(?) p.(Thr5=) Unknown - likely benign g.11688118C>T g.11577303C>T ACP5(NM_001111035.2):c.15G>A (p.T5=) - ACP5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131C>T r.(?) p.(Thr44Met) Unknown - pathogenic g.11688002G>A g.11577187G>A ACP5(NM_001611.5):c.131C>T (p.(Thr44Met)) - ACP5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131C>T r.(?) p.(Thr44Met) Unknown - VUS g.11688002G>A - ACP5(NM_001611.5):c.131C>T (p.(Thr44Met)) - ACP5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.266C>T r.(?) p.(Thr89Ile) Both (homozygous) - pathogenic g.11687654G>A g.11576839G>A - - ACP5_000003 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 brother patient 5; consanguineous parents (first cousins) M yes Turkey - - - - - 1 Marcin Szynkiewicz
+/. 5 c.266C>T r.(?) p.(Thr89Ile) Both (homozygous) - pathogenic g.11687654G>A g.11576839G>A - - ACP5_000003 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 sister patient 4; consanguineous parents (first cousins) F yes Turkey - - - - - 1 Marcin Szynkiewicz
-?/. - c.276C>T r.(?) p.(Asp92=) Unknown - likely benign g.11687644G>A - ACP5(NM_001111035.3):c.276C>T (p.D92=) - ACP5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290G>A r.(?) p.(Arg97His) Unknown - likely benign g.11687630C>T - ACP5(NM_001111035.3):c.290G>A (p.R97H) - ACP5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299G>A r.(?) p.(Arg100His) Unknown - likely benign g.11687621C>T - ACP5(NM_001111035.2):c.299G>A (p.R100H), ACP5(NM_001611.3):c.299G>A (p.(Arg100His)) - ACP5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299G>A r.(?) p.(Arg100His) Unknown - likely benign g.11687621C>T - ACP5(NM_001111035.2):c.299G>A (p.R100H), ACP5(NM_001611.3):c.299G>A (p.(Arg100His)) - ACP5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Val106Met) Unknown - VUS g.11687604C>T - ACP5(NM_001111035.2):c.316G>A (p.V106M) - ACP5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.369C>A r.(?) p.(Tyr123*) Parent #1 - pathogenic g.11687551G>T g.11576736G>T - - ACP5_000001 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 twin sister patient 3 - - Austria - - - - - 1 Marcin Szynkiewicz
+/. 5 c.369C>A r.(?) p.(Tyr123*) Parent #1 - pathogenic g.11687551G>T g.11576736G>T - - ACP5_000001 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 twin brother patient 2 M - Austria - - - - - 1 Marcin Szynkiewicz
?/. - c.386G>A r.(?) p.(Arg129His) Unknown - VUS g.11687534C>T g.11576719C>T ACP5(NM_001111035.2):c.386G>A (p.R129H) - ACP5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413_415del r.(?) p.(Arg138del) Unknown - VUS g.11687380_11687382del g.11576565_11576567del ACP5(NM_001111035.2):c.413_415delGCC (p.R138del) - ACP5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495T>G r.(?) p.(Asp165Glu) Unknown - likely benign g.11687298A>C g.11576483A>C ACP5(NM_001111035.2):c.495T>G (p.D165E), ACP5(NM_001111035.3):c.495T>G (p.D165E) - ACP5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495T>G r.(?) p.(Asp165Glu) Unknown - likely benign g.11687298A>C - ACP5(NM_001111035.2):c.495T>G (p.D165E), ACP5(NM_001111035.3):c.495T>G (p.D165E) - ACP5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>A r.(?) p.(Ala181=) Unknown - likely benign g.11687250G>T - ACP5(NM_001111035.3):c.543C>A (p.A181=) - ACP5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601C>T r.(?) p.(Leu201=) Unknown - likely benign g.11687192G>A g.11576377G>A ACP5(NM_001111035.2):c.601C>T (p.L201=) - ACP5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.643G>A r.(?) p.(Gly215Arg) Both (homozygous) - pathogenic g.11687150C>T g.11576335C>T - - ACP5_000006 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 - F - Mali - - - - - 1 Marcin Szynkiewicz
-/. - c.661G>A r.(?) p.(Val221Ile) Unknown - benign g.11687132C>T g.11576317C>T ACP5(NM_001111034.1):c.661G>A (p.(Val221Ile)), ACP5(NM_001111035.3):c.661G>A (p.V221I) - ACP5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661G>A r.(?) p.(Val221Ile) Unknown - likely benign g.11687132C>T - ACP5(NM_001111034.1):c.661G>A (p.(Val221Ile)), ACP5(NM_001111035.3):c.661G>A (p.V221I) - ACP5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.667C>T r.(?) p.(Gln223*) Both (homozygous) - pathogenic g.11687126G>A g.11576311G>A - - ACP5_000004 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 consanguineous parents (first cousins) M yes Pakistan - - - - - 1 Marcin Szynkiewicz
-?/. - c.720C>T r.(?) p.(His240=) Unknown - likely benign g.11687073G>A g.11576258G>A ACP5(NM_001111035.2):c.720C>T (p.H240=) - ACP5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.721G>A r.(?) p.(Asp241Asn) Parent #2 - pathogenic g.11687072C>T g.11576257C>T - - ACP5_000002 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 twin sister patient 3 - - Austria - - - - - 1 Marcin Szynkiewicz
+/. 6 c.721G>A r.(?) p.(Asp241Asn) Parent #2 - pathogenic g.11687072C>T g.11576257C>T - - ACP5_000002 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 twin brother patient 2 M - Austria - - - - - 1 Marcin Szynkiewicz
?/. - c.736-3C>T r.spl? p.? Unknown - VUS g.11686070G>A - ACP5(NM_001611.5):c.736-3C>T - ACP5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758T>C r.(?) p.(Val253Ala) Unknown - VUS g.11686045A>G - ACP5(NM_001111035.3):c.758T>C (p.V253A) - ACP5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.766G>C r.(?) p.(Val256Leu) Unknown - likely benign g.11686037C>G - ACP5(NM_001111035.2):c.766G>C (p.V256L), ACP5(NM_001111035.3):c.766G>C (p.V256L) - ACP5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.766G>C r.(?) p.(Val256Leu) Unknown - likely benign g.11686037C>G - ACP5(NM_001111035.2):c.766G>C (p.V256L), ACP5(NM_001111035.3):c.766G>C (p.V256L) - ACP5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.772_790del r.(?) p.(Ser258Trpfs*39) Both (homozygous) - pathogenic g.11686013_11686031del g.11575198_11575216del 771_790del - ACP5_000007 variant description corrected after contacting authors PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 - F - Egypt - - - - - 1 Marcin Szynkiewicz
+/. 7 c.791T>A r.(?) p.(Met264Lys) Both (homozygous) - pathogenic g.11686012A>T g.11575197A>T - - ACP5_000005 - PubMed: Briggs 2011 - - Germline - - - - - DNA SEQ - - SPENCDI - PubMed: Briggs 2011 consanguineous parents (first cousins) F yes Portugal - - - - - 1 Marcin Szynkiewicz
?/. - c.805C>T r.(?) p.(Arg269Trp) Unknown - VUS g.11685998G>A g.11575183G>A ACP5(NM_001111035.2):c.805C>T (p.R269W) - ACP5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - likely benign g.11685989G>A g.11575174G>A ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C) - ACP5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - likely benign g.11685989G>A g.11575174G>A ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C) - ACP5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - likely benign g.11685989G>A g.11575174G>A ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C) - ACP5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858A>G r.(?) p.(Glu286=) Unknown - likely benign g.11685945T>C - ACP5(NM_001111035.2):c.858A>G (p.E286=) - ACP5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860A>C r.(?) p.(Asp287Ala) Unknown - likely benign g.11685943T>G - ACP5(NM_001111035.2):c.860A>C (p.D287A) - ACP5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.861C>T r.(?) p.(Asp287=) Unknown - benign g.11685942G>A - ACP5(NM_001111035.3):c.861C>T (p.D287=) - ACP5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19751_*19753del r.(=) p.(=) Unknown - likely benign g.11666090_11666092del - ELOF1(NM_001363675.4):c.-74-30_-74-28delTTT - CNN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19752_*19753del r.(=) p.(=) Unknown - benign g.11666091_11666092del g.11555276_11555277del ELOF1(NM_001363675.2):c.-11-29_-11-28delTT - CNN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19752_*19753del r.(=) p.(=) Unknown - benign g.11666091_11666092del - ELOF1(NM_001363675.4):c.-74-29_-74-28delTT - CNN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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