Transcript #00000962

Transcript name transcript variant 1
Gene name ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Chromosome 5
Transcript - NCBI ID NM_000082.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000073.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-307C>T benign r.(?) p.(=)
+?/. 4 c.295_297delinsTG - r.(?) p.(Arg99Cysfs*26)
+/. - c.313_314del pathogenic r.(?) p.(Val105Thrfs*6)
+/. - c.316C>T pathogenic r.(?) p.(Gln106*)
+/. - c.317_320dup pathogenic r.(?) p.(Trp107*)
-?/. - c.363T>C likely benign r.(?) p.(=)
-/. - c.435T>C benign r.(?) p.(=)
+/. ? c.478G>A pathogenic r.(?) p.(Ala160Thr)
+/. ? c.479C>T pathogenic r.(?) p.(Ala160Val)
+/. ? c.582G>C pathogenic r.(?) p.(Trp194Cys)
+/. ? c.605T>C pathogenic r.(?) p.(Leu202Ser)
+/. ? c.613G>C pathogenic r.(?) p.(Ala205Pro)
+/. - c.719-1G>A pathogenic r.spl? p.?
?/. - c.784A>G VUS r.(?) p.(Thr262Ala)
+/. ? c.797A>G pathogenic r.(?) p.(Asp266Gly)
+/. - c.797A>G pathogenic r.(?) p.(Asp266Gly)
+?/. - c.797A>G likely pathogenic r.(?) p.(Asp266Gly)
+?/. - c.843+5G>C likely pathogenic r.spl? p.?
-?/. 9i c.844-1309G>A - r.(?) p.(=)
-?/. 9i c.844-1309G>A - r.(?) p.(=)
-?/. 9i c.844-1055dup - r.(?) p.(=)
-?/. 9i c.844-577dup - r.(?) p.(=)
-?/. 9i c.844-577dup - r.(=) p.(=)
?/. - c.1016G>A VUS r.(?) p.(Cys339Tyr)
+/. ? c.1083G>T pathogenic r.(?) p.(Trp361Cys)
?/. - c.1105G>C VUS r.(?) p.(Val369Leu)
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