Unique variants in the ABCB8 gene

Information The variants shown are described using the NM_007188.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.-4114C>G r.(?) p.(=) - VUS g.150721489C>G g.151024402C>G ATG9B(NM_173681.5):c.22G>C (p.(Gly8Arg)) - ATG9B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3538T>C r.(=) p.(=) - VUS g.150745974T>C g.151048887T>C ASIC3(NM_020321.3):c.2T>C (p.M1?) - ABCB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*3771C>T r.(=) p.(=) - VUS g.150746207C>T g.151049120C>T ASIC3(NM_020321.3):c.235C>T (p.R79*) - ABCB8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*3903G>A r.(=) p.(=) - VUS g.150746339G>A g.151049252G>A ASIC3(NM_004769.3):c.367G>A (p.(Ala123Thr)) - ASIC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4800C>A r.(=) p.(=) - VUS g.150747236C>A g.151050149C>A ASIC3(NM_004769.3):c.578C>A (p.(Ala193Asp)) - ASIC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6823C>T r.(=) p.(=) - VUS g.150749259C>T - ASIC3(NM_020321.3):c.1393C>T (p.R465*) - ABCB8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7221G>A r.(=) p.(=) - likely benign g.150749657G>A - ASIC3(NM_020321.3):c.1534G>A (p.E512K) - ABCB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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