Unique variants in the ASMT gene

Information The variants shown are described using the NM_004043.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

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     
-?/. 1 - c.-68+3669G>C r.(=) p.(=) - likely benign g.1718094G>C - AKAP17A(NM_005088.2):c.921G>C (p.K307N) - AKAP17A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-68+5324C>A r.(=) p.(=) - likely benign g.1719749C>A - AKAP17A(NM_005088.2):c.1350C>A (p.S450R) - AKAP17A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-68+5422C>T r.(=) p.(=) - VUS g.1719847C>T - AKAP17A(NM_005088.2):c.1448C>T (p.T483M) - AKAP17A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-68+5453C>T r.(=) p.(=) - likely benign g.1719878C>T - AKAP17A(NM_005088.2):c.1479C>T (p.A493=) - AKAP17A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.-68+5472C>G r.(=) p.(=) - VUS g.1719897C>G - - - AKAP17A_000010 recurrent, found 34 times PubMed: Tarpey 2009 - - Germline - 34/208 cases - - - Lucy Raymond
-?/. 1 - c.-68+5574G>A r.(=) p.(=) - likely benign g.1719999G>A - AKAP17A(NM_005088.2):c.1600G>A (p.E534K) - AKAP17A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.-68+5897G>A r.(=) p.(=) - VUS g.1720322G>A - P641P - AKAP17A_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.-68+5973G>A r.(=) p.(=) - likely benign g.1720398G>A - AKAP17A(NM_005088.2):c.1999G>A (p.A667T) - AKAP17A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.-68+5997C>T r.(=) p.(=) - VUS g.1720422C>T - - - AKAP17A_000012 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
-?/. 1 - c.-68+6004G>A r.(=) p.(=) - likely benign g.1720429G>A - AKAP17A(NM_005088.2):c.2030G>A (p.R677Q) - AKAP17A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.45C>T r.(?) p.(=) - likely benign g.1734137C>T - Y15Y - ASMT_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 2 c.51C>A r.(?) p.(Asn17Lys) - VUS g.1734143C>A - N17K - ASMT_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 3 c.187C>T r.(?) p.(=) - likely benign g.1742149C>T - L63L - ASMT_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.630C>T r.(?) p.(Arg210=) - likely benign g.1751664C>T - ASMT(NM_004043.2):c.630C>T (p.R210=) - AKAP17A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 9 c.861C>T r.(?) p.(=) - likely benign g.1755404C>T - D287D - ASMT_000004 recurrent, found 26 times PubMed: Tarpey 2009 - - Germline - 26/208 cases - - - Lucy Raymond
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