Transcript #00001850

Transcript name ATP-binding cassette, sub-family A (ABC1), member 7
Gene name ABCA7 (ATP-binding cassette, sub-family A (ABC1), member 7)
Chromosome 19
Transcript - NCBI ID NM_019112.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061985.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

44 entries on 1 page. Showing entries 1 - 44.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-2685del likely benign r.(?) p.(=)
-?/. - c.-2663A>G likely benign r.(?) p.(=)
-?/. - c.-2654C>T likely benign r.(?) p.(=)
-?/. - c.-2618T>C likely benign r.(?) p.(=)
-?/. - c.-2617G>A likely benign r.(?) p.(=)
-?/. - c.-2615G>T likely benign r.(?) p.(=)
-?/. - c.-2577G>A likely benign r.(?) p.(=)
-?/. - c.-2567G>A likely benign r.(?) p.(=)
-?/. - c.-2552C>A likely benign r.(?) p.(=)
-?/. - c.-2532A>C likely benign r.(?) p.(=)
-?/. - c.-2526G>A likely benign r.(?) p.(=)
-?/. - c.-2523G>C likely benign r.(?) p.(=)
-?/. - c.-2505A>G likely benign r.(?) p.(=)
-?/. - c.-2489A>G likely benign r.(?) p.(=)
-?/. - c.-2477T>C likely benign r.(?) p.(=)
?/. - c.778G>T VUS r.(?) p.(Asp260Tyr)
-?/. - c.835C>T likely benign r.(?) p.(=)
-?/. - c.946G>A likely benign r.(?) p.(Glu316Lys)
-?/. - c.974G>A likely benign r.(?) p.(Arg325Gln)
?/. - c.1120C>T VUS r.(?) p.(Arg374*)
?/. - c.1456C>G VUS r.(?) p.(Pro486Ala)
?/. - c.1684G>C VUS r.(?) p.(Val562Leu)
-?/. - c.1732_1775del likely benign r.(?) p.(Arg578Alafs*171)
-?/. - c.1766C>G likely benign r.(?) p.(Ala589Gly)
?/. - c.1861C>G VUS r.(?) p.(Pro621Ala)
?/. - c.1952C>G VUS r.(?) p.(Ser651Cys)
-?/. - c.2359C>G likely benign r.(?) p.(Pro787Ala)
-?/. - c.2401C>A likely benign r.(?) p.(Pro801Thr)
?/. - c.2684+5G>A VUS r.spl? p.?
?/. - c.2684+5G>A VUS r.spl? p.?
?/. - c.3148-5C>T VUS r.spl? p.?
?/. - c.3352C>T VUS r.(?) p.(Arg1118*)
-?/. - c.3653G>A likely benign r.(?) p.(Arg1218His)
?/. - c.3727-6C>T VUS r.(=) p.(=)
-?/. - c.4343G>A likely benign r.(?) p.(Gly1448Asp)
-?/. - c.4764+4C>T likely benign r.spl? p.?
?/. - c.4795G>A VUS r.(?) p.(Val1599Met)
-?/. - c.5071T>C likely benign r.(?) p.(Phe1691Leu)
?/. - c.5345G>A VUS r.(?) p.(Arg1782Gln)
?/. - c.5345G>A VUS r.(?) p.(Arg1782Gln)
-?/. - c.5570+5G>C likely benign r.spl? p.?
-?/. - c.5579G>A likely benign r.(?) p.(Arg1860Gln)
-?/. - c.6322G>A likely benign r.(?) p.(Glu2108Lys)
-?/. - c.6370C>T likely benign r.(?) p.(Pro2124Ser)
Legend