Transcript #00000904

Transcript name transcript variant 2
Gene name BHLHB9 (basic helix-loop-helix domain containing, class B, 9)
Chromosome X
Transcript - NCBI ID NM_030639.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_085142.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-5330A>G likely benign r.(?) p.(=)
-?/. - c.-5087C>T likely benign r.(?) p.(=)
?/. - c.-4682G>A VUS r.(?) p.(=)
-?/. - c.-4225G>A likely benign r.(?) p.(=)
-?/. - c.394A>G likely benign r.(?) p.(Ser132Gly)
-?/. - c.450G>T likely benign r.(?) p.(Glu150Asp)
-?/. - c.461C>T likely benign r.(?) p.(Ala154Val)
-?/. - c.565A>C likely benign r.(?) p.(Asn189His)
-?/. - c.655A>G likely benign r.(?) p.(Ile219Val)
?/. - c.943A>G VUS r.(?) p.(Lys315Glu)
-?/. - c.952T>C likely benign r.(?) p.(Cys318Arg)
?/. - c.969G>A VUS r.(?) p.(=)
-?/. 3 c.1212T>C - r.(?) p.(=)
?/. - c.1625A>C VUS r.(?) p.(Glu542Ala)
?/. - c.*1310del - - p.(=)
?/. - c.*1310_*1311del - - p.(=)
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