Transcript #00001847

Transcript name ATP-binding cassette, sub-family A (ABC1), member 4
Gene name ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4)
Chromosome 1
Transcript - NCBI ID NM_000350.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000341.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

8761 entries on 88 pages. Showing entries 1 - 100.
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Affects function     

ClassClinical     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - ? c.? r.(?) p.(?)
+?/. - ? c.? r.(?) p.(?)
+/. - ? c.? r.(?) p.?
?/. - ? c.? r.(?) p.(?)
+?/. - 36 c.? r.(?) p.(?)
+?/. - ? c.? r.(?) p.(?)
+?/. - ? c.? r.(?) p.(?)
+?/. - ? c.? r.(?) p.(?)
./. - - c.-4263834_*647310del r.? p.?
+?/. - _1_50_ c.(?_-1)_(*1_?)del r.0 p.0
+?/. - 1 c.1A>G r.(?) p.0?
+?/. - 1 c.1A>G r.(?) p.0?
+?/. - 1 c.1A>G r.(?) p.0?
+/+ ACMG: 5 1 c.1A>G r.? p.?
+?/. - 1 c.1A>G r.(?) p.0?
+/. - 1 c.1A>G r.(?) p.0?
+?/. - 1 c.1A>G r.(?) p.0?
+?/. - 1 c.1A>G r.(?) p.0?
+?/. - 1 c.1A>G r.(?) p.0?
+/. - 1 c.1A>G r.? p.0?
+/. - 1 c.1_3delinsGTC r.(?) p.0?
+/+ ACMG: 5 1 c.1_3delinsGTC r.? p.?
+/+ ACMG: 5 _1_50_ c.1_6822del r.0 p.0
+?/. - 1 c.2T>C r.(?) p.0?
+/. - 1 c.2T>C r.(?) p.0?
+/+ ACMG: 5 1 c.2T>C r.? p.?
+?/+? ACMG: 3 1 c.3G>A r.? p.?
+?/. - 1 c.3G>A r.(?) p.0?
+?/. - 1 c.22C>T r.(?) p.(Gln8*)
?/? ACMG: 3 1 c.22C>T r.(?) p.(Gln8*)
+?/+? ACMG: 4 1 c.32T>C r.(?) p.(Leu11Pro)
?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
+/. - 1 c.32T>C r.(?) p.(Leu11Pro)
+/. - 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
?/. - 1 c.32T>C r.(?) p.(Leu11Pro)
?/. - 1 c.38_46del r.(?) p.(Lys13_Trp15del)
?/. - 1 c.38_46del r.(?) p.(Lys13_Trp15del)
+?/+? ACMG: 4 1 c.38_46del r.(?) p.(Lys13_Trp15del)
+/. - 1 c.43_47del r.(?) p.(Trp15Profs*37)
+/+ ACMG: 5 1 c.43_47del r.(?) p.(Trp15Profs*37)
+?/. - 1 c.45G>A r.(?) p.(Trp15*)
+/+ ACMG: 5 1 c.45G>A r.(?) p.(Trp15*)
+?/. - 1 c.45G>A r.(?) p.(Trp15*)
+?/+? ACMG: 4 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
?/. - 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. likely pathogenic (recessive) 1 c.53G>A r.(?) p.(Arg18Gln)
+/. pathogenic - c.61C>T r.(?) p.(Gln21*)
+/+ ACMG: 5 1 c.61C>T r.(?) p.(Gln21*)
+?/. - 1 c.61C>T r.(?) p.(Gln21*)
+?/. - 1 c.61C>T r.(?) p.(Gln21*)
?/. - 1 c.66G>A r.(?) p.[(Lys21=, ?)]
+/. pathogenic (recessive) - c.66G>A r.spl p.?
?/. - 1i c.66+3A>C r.(spl?) p.(?)
+?/+? ACMG: 3 1i c.66+3A>C r.spl? p.?
+?/. likely pathogenic 1i c.67-2A>G r.spl p.?
+?/. likely pathogenic 1i c.67-2A>G r.spl p.?
+/. pathogenic 1i c.67-1del r.spl p.?
+/. pathogenic (recessive) 1i c.67-1del r.spl p.?
+/. pathogenic (recessive) 1i c.67-1del r.spl p.?
+/. pathogenic (recessive) 1i c.67-1del r.spl p.?
+?/. - 2 c.70C>T r.(?) p.(Arg24Cys)
?/. - 2 c.70C>T r.(?) p.(Arg24Cys)
+?/+? likely pathogenic 2 c.70C>T r.(?) p.(Arg24Cys)
+?/. likely pathogenic - c.70C>T r.(?) p.(Arg24Cys)
+?/+? ACMG: 4 2 c.70C>T r.(?) p.(Arg24Cys)
+?/. likely pathogenic - c.71G>A r.(?) p.(Arg24His)
+/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
+/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/. - 2 c.71G>A r.(?) p.(Arg24His)
?/. - 2 c.71G>A r.(?) p.(Arg24His)
?/. VUS - c.71G>A r.(?) p.(Arg24His)
?/. - 2 c.71G>A r.(?) p.(Arg24His)
+?/+? ACMG: 4 2 c.71G>A r.(?) p.(Arg24His)
-/. benign - c.87C>T r.(?) p.(=)
+?/+? ACMG: 4 2 c.91T>C r.(?) p.(Trp31Arg)
+?/. - 2 c.91T>C r.(?) p.(Trp31Arg)
+?/. likely pathogenic (recessive) - c.91T>C r.(?) p.(Trp31Arg)
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