Transcript #00000773

Transcript name transcript variant 156
Gene name DIAPH2 (diaphanous homolog 2 (Drosophila))
Chromosome X
Transcript - NCBI ID NM_006729.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_006720.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.70A>T VUS r.(?) p.(Asn24Tyr)
?/. 3 c.247G>A - r.(?) p.(Ala83Thr)
-?/. - c.247G>A likely benign r.(?) p.(Ala83Thr)
?/. - c.448-143T>C - - p.(=)
?/. - c.448-143T>C - - p.(=)
-?/. - c.587+2965G>A likely benign r.(=) p.(=)
-?/. - c.587+2999G>A likely benign r.(=) p.(=)
-?/. - c.587+3080A>G likely benign r.(=) p.(=)
-?/. - c.587+3160G>T likely benign r.(=) p.(=)
-?/. - c.587+3170A>G likely benign r.(=) p.(=)
-?/. 6 c.588C>T - r.(?) p.(=)
?/. - c.660dup VUS r.(?) p.(Gln221Thrfs*6)
?/. - c.733-21_733-20del - - p.(=)
-/. - c.733-3del benign r.spl? p.?
-?/. - c.733-2A>T likely benign r.spl? p.?
-?/. - c.733-2_733-1del likely benign r.spl? p.?
-?/. - c.733-1G>T likely benign r.spl? p.?
-?/. - c.736G>T likely benign r.(?) p.(Gly246*)
-?/. - c.736_738del likely benign r.(?) p.(Gly246del)
-?/. - c.737G>T likely benign r.(?) p.(Gly246Val)
?/. - c.1326-137A>G - - p.(=)
?/. - c.1326-137A>G - - p.(=)
?/. - c.1444+40G>A - - p.(=)
?/. - c.1444+40G>A - - p.(=)
-?/. - c.1512C>T likely benign r.(?) p.(=)
-?/. - c.1518A>T likely benign r.(?) p.(Glu506Asp)
?/. - c.1935+66T>C - - p.(=)
?/. - c.1935+66T>C - - p.(=)
-?/. - c.2200G>A likely benign r.(?) p.(Val734Ile)
-?/. - c.2805A>G likely benign r.(?) p.(=)
-?/. - c.2815C>A likely benign r.(?) p.(Gln939Lys)
?/. - c.2968G>A VUS r.(?) p.(Glu990Lys)
?/. - c.3106C>A VUS r.(?) p.(Arg1036Ser)
?/. 26 c.3106C>A - r.(?) p.(Arg1036Ser)
?/. - c.3241+65del - - p.(=)
?/. - c.*1211G>A - - p.(=)
?/. - c.*1211G>A - - p.(=)
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