All variants in the AK2 gene

Information The variants shown are described using the NM_001625.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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.1A>G r.(?) p.(Met1?) - pathogenic g.33502429T>C - AK2(NM_001319141.3):c.1A>G (p.M1?) - AK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.25G>A r.(?) p.(Glu9Lys) - likely benign g.33502405C>T g.33036804C>T AK2(NM_001199199.1):c.25G>A (p.(Glu9Lys)), AK2(NM_001319141.1):c.25G>A (p.E9K), AK2(NM_001625.4):c.25G>A (p.E9K) - AK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.25G>A r.(?) p.(Glu9Lys) - likely benign g.33502405C>T - AK2(NM_001199199.1):c.25G>A (p.(Glu9Lys)), AK2(NM_001319141.1):c.25G>A (p.E9K), AK2(NM_001625.4):c.25G>A (p.E9K) - AK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.25G>A r.(?) p.(Glu9Lys) - likely benign g.33502405C>T - AK2(NM_001199199.1):c.25G>A (p.(Glu9Lys)), AK2(NM_001319141.1):c.25G>A (p.E9K), AK2(NM_001625.4):c.25G>A (p.E9K) - AK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.34T>G r.(?) p.(Tyr12Asp) - likely benign g.33502396A>C - AK2(NM_001625.4):c.34T>G (p.Y12D) - AK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.49C>G r.(?) p.(Arg17Gly) - VUS g.33502381G>C g.33036780G>C AK2(NM_001319141.1):c.49C>G (p.R17G), AK2(NM_001625.4):c.49C>G (p.(Arg17Gly), p.R17G) - AK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.49C>G r.(?) p.(Arg17Gly) - VUS g.33502381G>C - AK2(NM_001319141.1):c.49C>G (p.R17G), AK2(NM_001625.4):c.49C>G (p.(Arg17Gly), p.R17G) - AK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.49C>G r.(?) p.(Arg17Gly) - VUS g.33502381G>C - AK2(NM_001319141.1):c.49C>G (p.R17G), AK2(NM_001625.4):c.49C>G (p.(Arg17Gly), p.R17G) - AK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.54C>T r.(?) p.(Ala18=) - benign g.33502376G>A g.33036775G>A AK2(NM_013411.3):c.54C>T (p.A18=) - AK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.73G>A r.(?) p.(Gly25Arg) - benign g.33502357C>T g.33036756C>T AK2(NM_013411.3):c.73G>A (p.G25R) - AK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.171C>A r.(?) p.(Gly57=) - likely benign g.33490091G>T g.33024490G>T AK2(NM_001319139.1):c.27C>A (p.G9=) - AK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.224G>T r.(?) p.(Ser75Ile) - VUS g.33487300C>A - AK2(NM_001625.4):c.224G>T (p.S75I) - AK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.247A>G r.(?) p.(Ile83Val) - VUS g.33487277T>C g.33021676T>C AK2(NM_001319139.1):c.103A>G (p.I35V), AK2(NM_001625.4):c.247A>G (p.I83V) - AK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.247A>G r.(?) p.(Ile83Val) - likely benign g.33487277T>C - AK2(NM_001319139.1):c.103A>G (p.I35V), AK2(NM_001625.4):c.247A>G (p.I83V) - AK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.307C>T r.(?) p.(Arg103Trp) - VUS g.33487217G>A - - - AK2_000030 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.386G>A r.(?) p.(Ser129Asn) - likely benign g.33487007C>T g.33021406C>T AK2(NM_001319139.1):c.242G>A (p.S81N) - AK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.419C>T r.(?) p.(Thr140Ile) - VUS g.33486974G>A - AK2(NM_001625.4):c.419C>T (p.(Thr140Ile)) - AK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.460G>A r.(?) p.(Glu154Lys) - VUS g.33480161C>T g.33014560C>T AK2(NM_001319139.1):c.316G>A (p.E106K) - AK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.494A>G r.(?) p.(Asp165Gly) - VUS g.33480127T>C - AK2(NM_001319139.1):c.350A>G (p.D117G) - AK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.499-8G>T r.(=) p.(=) - likely benign g.33479011C>A g.33013410C>A AK2(NM_013411.3):c.499-8G>T - AK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.519C>T r.(?) p.(Ile173=) - benign g.33478983G>A g.33013382G>A AK2(NM_013411.3):c.519C>T (p.I173=) - AK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.543G>C r.(?) p.(Lys181Asn) - likely benign g.33478959C>G - AK2(NM_001625.4):c.543G>C (p.(Lys181Asn)) - AK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.545C>A r.(?) p.(Ala182Asp) - likely pathogenic g.33478957G>T g.33013356G>T - - AK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.557G>A r.(?) p.(Arg186His) - VUS g.33478945C>T g.33013344C>T AK2(NM_001319139.1):c.413G>A (p.R138H) - AK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.582C>T r.(?) p.(Thr194=) - benign g.33478920G>A g.33013319G>A AK2(NM_013411.3):c.582C>T (p.T194=) - AK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.602A>T r.(?) p.(Tyr201Phe) - likely benign g.33478900T>A g.33013299T>A AK2(NM_001199199.1):c.578A>T (p.(Tyr193Phe)), AK2(NM_013411.3):c.602A>T (p.Y201F) - AK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.602A>T r.(?) p.(Tyr201Phe) - VUS g.33478900T>A g.33013299T>A AK2(NM_001199199.1):c.578A>T (p.(Tyr193Phe)), AK2(NM_013411.3):c.602A>T (p.Y201F) - AK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.603C>T r.(?) p.(Tyr201=) - likely benign g.33478899G>A g.33013298G>A AK2(NM_001319139.1):c.459C>T (p.Y153=) - AK2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.614G>A r.(?) p.(Gly205Glu) - benign g.33478888C>T g.33013287C>T AK2(NM_001199199.1):c.590G>A (p.(Gly197Glu)), AK2(NM_013411.3):c.614G>A (p.G205E) - AK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.614G>A r.(?) p.(Gly205Glu) - VUS g.33478888C>T g.33013287C>T AK2(NM_001199199.1):c.590G>A (p.(Gly197Glu)), AK2(NM_013411.3):c.614G>A (p.G205E) - AK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.624C>T r.(?) p.(Ser208=) - benign g.33478878G>A g.33013277G>A AK2(NM_013411.3):c.624C>T (p.S208=) - AK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.625G>A r.(?) p.(Ala209Thr) - likely benign g.33478877C>T g.33013276C>T - - AK2_000019 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12116440 Germline - 10/2771 individuals - - - Mohammed Faruq
-?/. - c.630C>G r.(?) p.(Ile210Met) - likely benign g.33478872G>C g.33013271G>C AK2(NM_001199199.1):c.606C>G (p.(Ile202Met)) - AK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.630C>T r.(?) p.(Ile210=) - benign g.33478872G>A g.33013271G>A AK2(NM_013411.3):c.630C>T (p.I210=) - AK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.631G>A r.(?) p.(Asp211Asn) - VUS g.33478871C>T - AK2(NM_001625.4):c.631G>A (p.D211N) - AK2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.642G>A r.(?) p.(Gln214=) - likely benign g.33478860C>T - AK2(NM_001625.4):c.642G>A (p.Q214=) - AK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.654C>T r.(?) p.(Val218=) - likely benign g.33478848G>A g.33013247G>A AK2(NM_013411.3):c.654C>T (p.V218=) - AK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.655G>A r.(?) p.(Val219Met) - VUS g.33478847C>T - AK2(NM_001319139.1):c.511G>A (p.V171M) - AK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.670C>T r.(?) p.(Leu224=) - likely benign g.33478832G>A - AK2(NM_001319139.1):c.526C>T (p.L176=) - AK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*206A>G r.(=) p.(=) - benign g.33478576T>C g.33012975T>C AK2(NM_013411.3):c.694+232A>G - AK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. - c.*2347G>T r.(=) p.(=) - likely pathogenic g.33476435C>A g.33010834C>A NM_013411.4(AK2):c.695-1G>T r.spl p.? - AK2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.*2347G>T r.(?) p.(=) - likely benign g.33476435C>A g.33010834C>A AK2 *45-1G>T - AK2_000001 - PubMed: Chia 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.*2347G>T r.(?) p.(=) - likely benign g.33476435C>A g.33010834C>A AK2 *45-1G>T - AK2_000001 - PubMed: Chia 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.*2349_*2350insACATCC r.(=) p.(=) - likely benign g.33476434_33476435insATGTGG - AK2(NM_013411.5):c.691_696dupACATCC (p.T231_S232dup) - AK2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.*2350_*2351insTCTCCAAAGCCACATCCT r.(=) p.(=) - benign g.33476434_33476435insATGTGGCTTTGGAGAAGG g.33010833_33010834insATGTGGCTTTGGAGAAGG AK2(NM_013411.3):c.680_697dupTCTCCAAAGCCACATCCT (p.F227_S232dup) - AK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2387A>G r.(=) p.(=) - likely benign g.33476395T>C - AK2(NR_134976.2):n.694A>G - AK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*2429G>A r.(=) p.(=) - benign g.33476353C>T g.33010752C>T AK2(NM_013411.3):c.*77G>A - AK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*2490T>C r.(=) p.(=) - benign g.33476292A>G g.33010691A>G AK2(NM_013411.3):c.*138T>C - AK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*2509A>G r.(=) p.(=) - likely benign g.33476273T>C - AK2(NR_134976.2):n.816A>G - AK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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