Transcript #00001846

Transcript name ATP-binding cassette, sub-family A (ABC1), member 3
Gene name ABCA3 (ATP-binding cassette, sub-family A (ABC1), member 3)
Chromosome 16
Transcript - NCBI ID NM_001089.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001080.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.160G>A VUS r.(?) p.(Ala54Thr)
-?/. - c.393C>T likely benign r.(?) p.(=)
+?/. - c.604G>A ACMG: 4 r.(?) p.(Gly202Arg)
-?/. 12 c.1383G>A - r.(=) p.(=)
?/. 12 c.1383G>A - r.(?) p.(Val461=)
-/. - c.1755C>G benign r.(?) p.(=)
-?/. - c.2268C>T likely benign r.(?) p.(=)
?/. - c.2389A>C VUS r.(?) p.(Ile797Leu)
-?/. - c.2460G>A likely benign r.(?) p.(=)
-?/. - c.3284G>A likely benign r.(?) p.(Arg1095Gln)
-/. - c.4116T>C benign r.(?) p.(=)
-?/. - c.4420C>T likely benign r.(?) p.(Arg1474Trp)
-?/. - c.4420C>T likely benign r.(?) p.(Arg1474Trp)
?/. - c.4871T>C VUS r.(?) p.(Leu1624Pro)
-?/. - c.5048T>C likely benign r.(?) p.(Ile1683Thr)
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