Transcript #00001885

Transcript name transcript variant 1
Gene name ABCD4 (ATP-binding cassette, sub-family D (ALD), member 4)
Chromosome 14
Transcript - NCBI ID NM_005050.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005041.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.10G>C benign r.(?) p.(Ala4Pro)
-?/. - c.176A>G likely benign r.(?) p.(Gln59Arg)
-/. - c.184T>C benign r.(?) p.(=)
?/. - c.188T>C VUS r.(?) p.(Ile63Thr)
?/. - c.362G>A VUS r.(?) p.(Arg121His)
-?/. - c.383C>T likely benign r.(?) p.(Ala128Val)
?/. - c.394C>T VUS r.(?) p.(Leu132Phe)
-?/. - c.514G>A likely benign r.(?) p.(Val172Ile)
-?/. - c.543-14T>C likely benign r.(=) p.(=)
-?/. - c.668+7C>T likely benign r.(=) p.(=)
-/. - c.910G>A benign r.(?) p.(Ala304Thr)
-/. - c.981C>A benign r.(?) p.(=)
-/. - c.1042C>T benign r.(?) p.(Arg348Trp)
-?/. - c.1042C>T likely benign r.(?) p.(Arg348Trp)
-?/. - c.1049C>T likely benign r.(?) p.(Thr350Met)
-/. - c.1102G>A benign r.(?) p.(Glu368Lys)
?/. - c.1346C>T VUS r.(?) p.(Thr449Met)
-?/. - c.1507-4A>G likely benign r.spl? p.?
?/. - c.1520C>A VUS r.(?) p.(Ala507Glu)
-?/. - c.1565A>G likely benign r.(?) p.(Asp522Gly)
?/. - c.1574C>G VUS r.(?) p.(Ser525Cys)
?/. - c.1730G>A VUS r.(?) p.(Gly577Glu)
-?/. - c.1752+5C>T likely benign r.spl? p.?
-/. - c.1753-46A>G benign r.(=) p.(=)
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