All variants in the ATCAY gene

Information The variants shown are described using the NM_033064.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.36C>T r.(?) p.(Asn12=) - likely benign g.3885801C>T g.3885803C>T ATCAY(NM_033064.4):c.36C>T (p.N12=) - ATCAY_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.76A>T r.(?) p.(Arg26Trp) - VUS g.3885841A>T g.3885843A>T ATCAY(NM_033064.4):c.76A>T (p.R26W) - ATCAY_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.95C>T r.(?) p.(Thr32Met) - VUS g.3902502C>T g.3902504C>T ATCAY(NM_033064.4):c.95C>T (p.T32M) - ATCAY_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.98G>A r.(?) p.(Gly33Glu) - VUS g.3902505G>A g.3902507G>A ATCAY(NM_033064.4):c.98G>A (p.G33E) - ATCAY_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.120G>A r.(?) p.(Pro40=) - likely benign g.3902527G>A g.3902529G>A ATCAY(NM_033064.4):c.120G>A (p.P40=) - ATCAY_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.136+13G>A r.(=) p.(=) - likely benign g.3902556G>A g.3902558G>A ATCAY(NM_033064.4):c.136+13G>A - ATCAY_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.280A>T r.(?) p.(Asn94Tyr) - VUS g.3905575A>T g.3905577A>T ATCAY(NM_033064.4):c.280A>T (p.N94Y) - ATCAY_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.379G>A r.(?) p.(Ala127Thr) - likely benign g.3907752G>A g.3907754G>A ATCAY(NM_033064.4):c.379G>A (p.A127T) - ATCAY_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.404C>T r.(?) p.(Ala135Val) - VUS g.3907777C>T g.3907779C>T ATCAY(NM_033064.4):c.404C>T (p.(Ala135Val)) - ATCAY_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.426G>A r.(?) p.(Thr142=) - likely benign g.3907799G>A g.3907801G>A ATCAY(NM_033064.4):c.426G>A (p.T142=) - ATCAY_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.429G>A r.(?) p.(Thr143=) - likely benign g.3907802G>A g.3907804G>A ATCAY(NM_033064.4):c.429G>A (p.T143=) - ATCAY_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.442G>A r.(?) p.(Ala148Thr) - VUS g.3907815G>A g.3907817G>A ATCAY(NM_033064.4):c.442G>A (p.A148T) - ATCAY_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.442G>A r.(?) p.(Ala148Thr) - VUS g.3907815G>A g.3907817G>A ATCAY(NM_033064.4):c.442G>A (p.A148T) - ATCAY_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.544+16dup r.(=) p.(=) - likely benign g.3907933dup g.3907935dup ATCAY(NM_033064.4):c.544+16dupC - ATCAY_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.583G>A r.(?) p.(Ala195Thr) - likely benign g.3908304G>A g.3908306G>A ATCAY(NM_033064.4):c.583G>A (p.A195T) - ATCAY_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.647+17G>A r.(=) p.(=) - benign g.3908385G>A g.3908387G>A ATCAY(NM_033064.4):c.647+17G>A - ATCAY_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.722G>A r.(?) p.(Arg241Gln) - VUS g.3909558G>A - ATCAY(NM_033064.4):c.722G>A (p.R241Q) - ATCAY_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.866+7C>T r.(=) p.(=) - likely benign g.3910894C>T g.3910896C>T ATCAY(NM_033064.4):c.866+7C>T (, p.(=)) - ATCAY_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.866+7C>T r.(=) p.(=) - likely benign g.3910894C>T - ATCAY(NM_033064.4):c.866+7C>T (, p.(=)) - ATCAY_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.866+10G>A r.(=) p.(=) - likely benign g.3910897G>A g.3910899G>A ATCAY(NM_033064.4):c.866+10G>A - ATCAY_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1053G>A r.(?) p.(Glu351=) - likely benign g.3918855G>A g.3918857G>A ATCAY(NM_033064.4):c.1053G>A (p.E351=) - ATCAY_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1074-14T>C r.(=) p.(=) - benign g.3920750T>C g.3920752T>C ATCAY(NM_033064.4):c.1074-14T>C - ATCAY_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1106+10A>T r.(=) p.(=) - VUS g.3920806A>T g.3920808A>T ATCAY(NM_033064.4):c.1106+10A>T - ATCAY_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*7G>A r.(=) p.(=) - likely benign g.3924597G>A g.3924599G>A ATCAY(NM_033064.4):c.*7G>A - ATCAY_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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