Transcript #00022857

Transcript name transcript variant 1
Gene name WNT5A (wingless-type MMTV integration site family, member 5A)
Chromosome 3
Transcript - NCBI ID NM_003392.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003383.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.20T>C likely benign r.(?) p.(Ile7Thr)
-?/. - c.110C>G likely benign r.(?) p.(Ala37Gly)
+?/. - c.205T>G likely pathogenic r.(?) p.(Cys69Gly)
+/. - c.206G>A pathogenic r.(?) p.(Cys69Tyr)
+?/. - c.247T>C likely pathogenic r.(?) p.(Cys83Arg)
+?/. - c.325C>T - r.(?) p.(Arg109*)
-/. - c.391+11A>G benign r.(=) p.(=)
-?/. - c.427G>T likely benign r.(?) p.(Ala143Ser)
?/. - c.499G>A VUS r.(?) p.(Ala167Thr)
?/. - c.530G>C VUS r.(?) p.(Trp177Ser)
-?/. - c.588C>T likely benign r.(?) p.(=)
?/. - c.1093G>A VUS r.(?) p.(Val365Ile)
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