Transcript #00022389

Transcript name transcript variant 1
Gene name UNC45B (unc-45 homolog B (C. elegans))
Chromosome 17
Transcript - NCBI ID NM_173167.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775259.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.183G>T likely benign r.(?) p.(Gln61His)
-?/. - c.206-3T>C likely benign r.spl? p.?
-?/. - c.298G>A likely benign r.(?) p.(Val100Met)
?/. - c.394T>C VUS r.(?) p.(Phe132Leu)
?/. - c.701A>C VUS r.(?) p.(Asn234Thr)
-?/. - c.1151+18C>T likely benign r.(=) p.(=)
-?/. - c.1389G>A likely benign r.(?) p.(=)
-?/. - c.1624G>A likely benign r.(?) p.(Ala542Thr)
-?/. - c.1637A>T likely benign r.(?) p.(Asp546Val)
?/. - c.1652A>G VUS r.(?) p.(Asp551Gly)
?/. - c.1836+8C>A VUS r.(=) p.(=)
?/. - c.1907G>A VUS r.(?) p.(Cys636Tyr)
-?/. - c.2144G>A likely benign r.(?) p.(Arg715Gln)
?/. - c.2162G>A VUS r.(?) p.(Arg721Gln)
+/. - c.2261G>A pathogenic (recessive) r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.?
+/. - c.2261G>A pathogenic (recessive) r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.?
+/. - c.2261G>A pathogenic (recessive) r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.?
+/. - c.2261G>A pathogenic (recessive) r.[(2261g>a,2261_2262ins2261+1_2261+9)] p.?
+?/. - c.2261+5G>C pathogenic (recessive) r.spl? p.?
+?/. - c.2332C>T likely pathogenic (recessive) r.(?) p.(Arg778Trp)
?/. - c.2357G>A VUS r.(?) p.(Cys786Tyr)
+/? 19 c.2413C>T - r.(?) p.(Arg805Trp)
?/. - c.2421G>C VUS r.(?) p.(Lys807Asn)
-?/. - c.2439C>T likely benign r.(?) p.(=)
-?/. - c.2536-3C>T likely benign r.spl? p.?
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