Transcript #00000019

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

52 entries on 1 page. Showing entries 1 - 52.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     
?/? c.-5081T>C r.(=) p.(=) utr-5
?/? c.-4878A>C r.(=) p.(=) utr-5
?/? c.-4315G>A r.(=) p.(=) utr-5
?/? c.-3781T>C r.(=) p.(=) utr-5
?/? c.-3225T>C r.(=) p.(=) utr-5
?/? c.-2401G>C r.(=) p.(=) utr-5
?/? c.-2111C>G r.(=) p.(=) utr-5
?/? c.-1888C>T r.(=) p.(=) utr-5
?/? c.-1762C>T r.(=) p.(=) utr-5
?/? c.-1462C>G r.(=) p.(=) utr-5
?/? c.-1440C>T r.(=) p.(=) utr-5
?/? c.-1338A>C r.(=) p.(=) utr-5
?/? c.-1147G>A r.(=) p.(=) utr-5
?/? c.-889C>T r.(=) p.(=) utr-5
?/? c.-707C>T r.(=) p.(=) utr-5
?/? c.-705C>T r.(=) p.(=) utr-5
?/? c.-342T>C r.(=) p.(=) utr-5
?/? c.-287G>A r.(=) p.(=) utr-5
?/? c.-137-459A>G r.(=) p.(=) intron
?/? c.563A>G r.(?) p.(Glu188Gly) missense
?/? c.1215+10T>C r.(=) p.(=) intron
?/? c.1216-26C>G r.(=) p.(=) intron
?/? c.1851A>G r.(?) p.(=) coding-synonymous
?/? c.2380+8A>C r.(=) p.(=) splice
?/? c.2385G>A r.(?) p.(=) coding-synonymous
?/? c.2553-46A>G r.(=) p.(=) intron
?/? c.3027C>T r.(?) p.(=) coding-synonymous
?/? c.3221-29C>T r.(=) p.(=) intron
?/? c.3417C>G r.(?) p.(=) coding-synonymous
?/? c.3528A>G r.(?) p.(=) coding-synonymous
?/? c.4046G>A r.(?) p.(Arg1349Gln) missense
?/? c.4239A>G r.(?) p.(=) coding-synonymous-near-splice
?/? c.4580G>C r.(?) p.(Gly1527Ala) missense
?/? c.5401-18A>G r.(=) p.(=) intron
?/? c.5487T>C r.(?) p.(=) coding-synonymous
?/? c.5570+33A>G r.(=) p.(=) intron
?/? c.5985G>A r.(?) p.(=) coding-synonymous
?/? c.6045-31G>C r.(=) p.(=) intron
?/? c.6133G>T r.(?) p.(Ala2045Ser) missense
?/? c.6285+27G>C r.(=) p.(=) intron
?/? c.*139G>C r.(=) p.(=) utr-3
?/? c.*253G>A r.(=) p.(=) utr-3
?/? c.*521C>T r.(=) p.(=) utr-3
?/? c.*832G>A r.(=) p.(=) utr-3
?/? c.*833G>A r.(=) p.(=) utr-3
?/? c.*1493G>A r.(=) p.(=) utr-3
?/? c.*2398A>G r.(=) p.(=) utr-3
?/? c.*2503C>T r.(=) p.(=) utr-3
?/? c.*3310T>C r.(=) p.(=) utr-3
?/? c.*3314G>A r.(=) p.(=) utr-3
?/? c.*3384G>A r.(=) p.(=) utr-3
?/? c.*3449G>A r.(=) p.(=) utr-3
Legend