Unique variants in gene ALAS2

Information The variants shown are described using the NM_000032.4 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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 _1 c.-91_-44del - r.(?) p.(=) g.55057403_55057450del - - - ALAS2_000009 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/., -/. 4 _1 c.-15-1790G>A likely benign, benign r.(=) p.(=) g.55054238C>T g.55027805C>T ALAS2(NM_001037968.3):c.3G>A (p.M1?, p.(Met1?)), NM_001037968.3:c.3G>A (p.?) - ALAS2_000015 VKGL data sharing initiative Nederland, not present in maternal uncle or grandfather PubMed: Bosch 2016, Journal: Bosch 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht, Danielle Bosch
-?/. 1 - c.-15-1786G>A likely benign r.(=) p.(=) g.55054234C>T - ALAS2(NM_001037968.3):c.7G>A (p.G3R) - ALAS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.190T>C likely benign r.(?) p.(Ser64Pro) g.55051265A>G - ALAS2(NM_000032.5):c.190T>C (p.S64P) - ALAS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.220C>T likely benign r.(?) p.(=) g.55051235G>A - ALAS2(NM_000032.5):c.220C>T (p.L74=) - ALAS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/., +/. 3 6 c.653G>A VUS, likely benign r.(?) p.(Arg218His) g.55046923C>T - ALAS2(NM_000032.5):c.653G>A (p.R218H) - ALAS2_000002, ALAS2_000021 VKGL data sharing initiative Nederland PubMed: Ducamp 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Gerard C.P. Schaafsma
?/. 1 6 c.724G>A - r.(?) p.(Glu242Lys) g.55046852C>T - - - ALAS2_000003 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 6 c.787G>A - r.(?) p.(Asp263Asn) g.55046789C>T - - - ALAS2_000004 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.828C>T likely benign r.(?) p.(=) g.55044094G>A - ALAS2(NM_000032.5):c.828C>T (p.C276=) - ALAS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.886G>A VUS r.(?) p.(Gly296Arg) g.55044036C>T - ALAS2(NM_000032.5):c.886G>A (p.G296R) - ALAS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 8 c.1016C>T - r.(?) p.(Pro339Leu) g.55042163G>A - - - ALAS2_000005 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.1045C>A likely benign r.(?) p.(Gln349Lys) g.55042134G>T - ALAS2(NM_000032.5):c.1045C>A (p.Q349K) - ALAS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 8 c.1123C>T - r.(?) p.(Arg375Cys) g.55042056G>A - - - ALAS2_000006 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 2 8i c.1169-157C>T - r.(=) p.(=) g.55041605G>A g.55015172G>A - - ALAS2_000014 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1187T>C VUS r.(?) p.(Val396Ala) g.55041430A>G - - - ALAS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 9 c.1231C>T - r.(?) p.(Arg411Cys) g.55041386G>A - - - ALAS2_000007 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 9 c.1232G>A - r.(?) p.(Arg411His) g.55041385C>T - - - ALAS2_000008 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.1233C>G likely benign r.(?) p.(=) g.55041384G>C - ALAS2(NM_000032.5):c.1233C>G (p.R411=) - ALAS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 9 c.1354C>G - r.(?) p.(Arg452Gly) g.55041263G>C - - - ALAS2_000010 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 9 c.1354C>T - r.(?) p.(Arg452Cys) g.55041263G>A - - - ALAS2_000011 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 - c.1355G>A pathogenic r.(?) p.(Arg452His) g.55041262C>T - - - ALAS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1355G>T - r.(?) p.(Arg452Leu) g.55041262C>A - - - ALAS2_000023 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-/., +/. 2 9 c.1559C>T benign r.(?) p.(Pro520Leu) g.55039960G>A - ALAS2(NM_000032.5):c.1559C>T (p.P520L) - ALAS2_000012 VKGL data sharing initiative Nederland PubMed: Ducamp 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Gerard C.P. Schaafsma
-?/. 1 - c.1676G>A likely benign r.(?) p.(Arg559His) g.55035701C>T - ALAS2(NM_000032.5):c.1676G>A (p.R559H) - ALAS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 11 c.1715G>A - r.(?) p.(Arg572His) g.55035662C>T - - - ALAS2_000013 - PubMed: Ducamp 2011 - - Germline - - - - - Gerard C.P. Schaafsma
?/., -?/. 2 - c.1718C>T VUS, likely benign r.(?) p.(Ser573Phe) g.55035659G>A - ALAS2(NM_000032.4):c.1718C>T (p.(Ser573Phe)), ALAS2(NM_000032.5):c.1718C>T (p.S573F) - ALAS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.*1497G>A VUS r.(=) p.(=) g.55034116C>T - APEX2(NM_014481.3):c.*248C>T (p.(=)) - APEX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1894C>T likely benign r.(=) p.(=) g.55033719G>A - APEX2(NM_014481.3):c.1408G>A (p.G470R) - APEX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1992T>A likely benign r.(=) p.(=) g.55033621A>T - APEX2(NM_001271748.1):c.797A>T (p.(Lys266Met)) - ALAS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*2280C>T VUS r.(=) p.(=) g.55033333G>A - APEX2(NM_014481.3):c.1022G>A (p.(Arg341His)) - APEX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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