All variants in the AAAS gene

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

25 entries on 1 page. Showing entries 1 - 25.
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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.43C>A r.(?) p.(Gln15Lys) - pathogenic g.53715207G>T g.53321423G>T AAAS(NM_015665.5):c.43C>A (p.(Gln15Lys)) - AAAS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.43C>A r.(?) p.(Gln15Lys) - pathogenic g.53715207G>T g.53321423G>T - - AAAS_000011 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.56A>G r.(?) p.(Tyr19Cys) - VUS g.53715194T>C - AAAS(NM_015665.5):c.56A>G (p.Y19C) - AAAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.124-20T>C r.(=) p.(=) - benign g.53714496A>G g.53320712A>G AAAS(NM_015665.6):c.124-20T>C - AAAS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.356G>A r.(?) p.(Arg119Gln) - likely benign g.53709162C>T g.53315378C>T AAAS(NM_015665.5):c.356G>A (p.R119Q) - AAAS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.464G>A r.(?) p.(Arg155His) ACMG pathogenic g.53708616C>T g.53314832C>T - - AAAS_000013 - - - rs758440592 Germline - - - 0 - Andreas Laner
-/. - c.679T>C r.(?) p.(Leu227=) - benign g.53708092A>G g.53314308A>G AAAS(NM_015665.5):c.679T>C (p.L227=) - AAAS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.787T>C r.(?) p.(Ser263Pro) - likely pathogenic g.53703408A>G g.53309624A>G - - AAAS_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918550 Germline - 1/2784 individuals - 0 - Mohammed Faruq
-/. - c.855C>T r.(?) p.(Phe285=) - benign g.53703021G>A g.53309237G>A AAAS(NM_015665.6):c.855C>T (p.F285=) - AAAS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 9 c.855_856delinsTT r.(?) p.(Arg286Ter) - pathogenic g.53703020_53703021delinsAA g.53309236_53309237delinsAA - - AAAS_000015 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.882C>T r.(?) p.(Leu294=) - likely benign g.53702994G>A - AAAS(NM_015665.5):c.882C>T (p.L294=) - C12orf10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.916A>C r.(?) p.(Thr306Pro) - VUS g.53702960T>G - AAAS(NM_015665.6):c.916A>C (p.T306P) - C12orf10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1024C>T r.(?) p.(Arg342Ter) - VUS g.53702572G>A g.53308788G>A AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*) - AAAS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1024C>T r.(?) p.(Arg342Ter) - likely pathogenic g.53702572G>A g.53308788G>A AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*) - AAAS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1234G>A r.(?) p.(Ala412Thr) - likely benign g.53702081C>T g.53308297C>T AAAS(NM_001173466.1):c.1135G>A (p.(Ala379Thr)) - C12orf10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1249+8G>A r.(=) p.(=) - likely benign g.53702058C>T g.53308274C>T AAAS(NM_015665.5):c.1249+8G>A - C12orf10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1301G>A r.(?) p.(Arg434Gln) - likely benign g.53701866C>T g.53308082C>T AAAS(NM_015665.5):c.1301G>A (p.R434Q) - AAAS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1331+1G>A r.spl? p.? - pathogenic g.53701835C>T g.53308051C>T AAAS(NM_015665.5):c.1331+1G>A - AAAS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.1331+1G>A r.spl? p.? - pathogenic g.53701835C>T g.53308051C>T AAAS(NM_015665.5):c.1331+1G>A - AAAS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1331+1G>A r.spl? p.? - pathogenic g.53701835C>T g.53308051C>T AAAS(NM_015665.5):c.1331+1G>A - AAAS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1416+8C>T r.(=) p.(=) - likely benign g.53701621G>A - AAAS(NM_015665.5):c.1416+8C>T - C12orf10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1417-3C>T r.spl? p.? - likely benign g.53701500G>A g.53307716G>A AAAS(NM_015665.5):c.1417-3C>T - C12orf10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1443C>T r.(?) p.(His481=) - likely benign g.53701471G>A - AAAS(NM_015665.5):c.1443C>T (p.H481=) - C12orf10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1478G>A r.(?) p.(Arg493His) - VUS g.53701436C>T - - - C12orf10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*407C>T r.(=) p.(=) - VUS g.53700866G>A g.53307082G>A C12orf10(NM_021640.3):c.1064G>A (p.(Arg355Gln)) - C12orf10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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