Full data view for gene ERCC5

Information The variants shown are described using the NM_000123.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

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Technique     

Disease     

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Ethnic origin     

Remarks     

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Owner     
./. 11 c.2392G>T r.(?) p.(Asp798Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103519054G>T Hijazi H1, Salih MA, Hamad MH, Hassan HH, Salih SB, Mohamed KA, Mukhtar MM, Karrar ZA, Ansari S, Ibrahim N, Alkuraya FS.(2015) ERCC5_000001 - ? ? CS Hijazi H1, Salih MA, Hamad MH, Hassan HH, Salih SB, Mohamed KA, Mukhtar MM, Karrar ZA, Ansari S, Ibrahim N, Alkuraya FS.(2015) - - 1 Y Yang
./. 11 c.2392G>T r.(?) p.(Asp798Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103519054G>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000001 - ? ? CS Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) - - 1 Y Yang
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