Transcript #00001848

Transcript name transcript variant 1
Gene name ABCA5 (ATP-binding cassette, sub-family A (ABC1), member 5)
Chromosome 17
Transcript - NCBI ID NM_018672.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061142.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.2893G>A likely benign r.(?) p.(Asp965Asn)
?/. - c.3144+4dup VUS r.spl? p.?
?/. - c.4196G>T VUS r.(?) p.(Gly1399Val)
?/. - c.*54006A>C VUS r.(=) p.(=)
-?/. - c.*93706G>A likely benign r.(=) p.(=)
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