Transcript #00000396

Transcript name transcript variant 2
Gene name FAM133A (family with sequence similarity 133, member A)
Chromosome X
Transcript - NCBI ID NM_173698.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775969.1
Protein - Ensembl ID -
Protein - Uniprot ID -
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.-2328C>A likely benign r.(?) p.(=)
-?/. - c.-2140T>C likely benign r.(?) p.(=)
-?/. - c.-1404T>C likely benign r.(?) p.(=)
?/. - c.-1395_-1390del VUS r.(?) p.(=)
-?/. - c.-1391_-1390insGCC likely benign r.(?) p.(=)
-?/. - c.-1383_-1357del likely benign r.(?) p.(=)
-?/. - c.-1288G>C likely benign r.(?) p.(=)
?/. - c.-1266C>A VUS r.(?) p.(=)
?/. - c.-103-166A>G - - p.(=)
?/. - c.-103-166A>G - - p.(=)
-?/. - c.67A>G likely benign r.(?) p.(Thr23Ala)
?/. 4 c.199G>A - r.(?) p.(Glu67Lys)
-?/. - c.369G>C likely benign r.(?) p.(Glu123Asp)
-?/. - c.419A>C likely benign r.(?) p.(Lys140Thr)
?/. - c.703A>T VUS r.(?) p.(Lys235*)
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