Transcript #00001845

Transcript name transcript variant 1
Gene name ABCA2 (ATP-binding cassette, sub-family A (ABC1), member 2)
Chromosome 9
Transcript - NCBI ID NM_001606.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001597.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-12972G>C likely benign r.(?) p.(=)
-?/. - c.-12565G>A likely benign r.(?) p.(=)
-?/. - c.-11933A>C likely benign r.(?) p.(=)
-?/. - c.-3007C>T likely benign r.(?) p.(=)
-?/. - c.-2629T>C likely benign r.(?) p.(=)
?/. - c.678+6G>A VUS r.(=) p.(=)
-?/. - c.702C>T likely benign r.(?) p.(=)
-?/. - c.1320G>A likely benign r.(?) p.(=)
?/. - c.1555-8A>G VUS r.(=) p.(=)
?/. - c.1994-2A>G VUS r.spl? p.?
-?/. - c.3414C>T likely benign r.(?) p.(=)
-?/. - c.3750C>T likely benign r.(?) p.(=)
-?/. - c.4494C>T likely benign r.(?) p.(=)
-?/. - c.4629C>T likely benign r.(?) p.(=)
?/. - c.5134G>A VUS r.(?) p.(Gly1712Ser)
?/. - c.5134G>A VUS r.(?) p.(Gly1712Ser)
?/. - c.5866C>T VUS r.(?) p.(His1956Tyr)
-?/. - c.5990C>T likely benign r.(?) p.(Ala1997Val)
-?/. - c.6921C>G likely benign r.(?) p.(=)
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