Unique variants in the CHCHD10 gene

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 2 c.48A>C r.(?) p.(=) - - g.24109774T>G Shen S et al. (2017)dbSNP CHCHD10_000010 - XY Liu
./. 1 2 c.64C>T r.(?) p.(His22Tyr) - - g.24109758G>A Jiao B et al. (2016) CHCHD10_000012 - XY Liu
./. 1 2 c.67C>T r.(?) p.(Pro23Ser) - - g.24109755G>A Jiao B et al. (2016) CHCHD10_000013 - XY Liu
?/., ./. 2 2 c.68C>T r.(68c>u), r.(?) p.(Pro23Leu) - - g.24109754G>A Shen Shen, et al. (2017), Jiao B et al. (2016) CHCHD10_000014 - XY Liu
./. 1 2 c.95C>A r.(?) p.(Ala32Asp) - - g.24109727G>T Jiao B et al. (2016) CHCHD10_000015 - XY Liu
./. 2 2 c.100C>T r.(?) p.(Pro34Ser) - - g.24109722G>A ChiĆ² A et al. (2015), Abdelkarim S et al. (2016) CHCHD10_000003 - XY Liu
+/. 1 2 c.104G>A r.(?) p.(Ala35Asp) - - g.24109718del Xiao T et al. (2016) CHCHD10_000008 - XY Liu
./. 1 2 c.141G>A r.(?) p.(=) - - g.24109681C>T Teyssou E et al. (2016) CHCHD10_000004 - XY Liu
./. 1 2 c.170T>A r.(?) p.(Val57Glu) - - g.24109652A>T Jiao B et al. (2016) CHCHD10_000016 - XY Liu
./. 1 2 c.176C>T r.(?) p.(Ser59Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.24109646G>A 1 more item CHCHD10_000001 - Y Yang
?/. 1 2 c.197G>T r.(197g>u) p.(Gly66Val) - - g.24109625C>A Carina Lehmer, et al. (2018) CHCHD10_000022 - XY Liu
./. 1 2 c.234G>A r.(?) p.(=) - - g.24109588C>T Teyssou E et al. (2016) CHCHD10_000005 - XY Liu
./. 1 3 c.286C>A r.(?) p.(Pro96Thr) - - g.24108438G>T Teyssou E et al. (2016) CHCHD10_000007 - XY Liu
./. 1 3 c.312C>T r.(?) p.(=) - - g.24108412G>A Shen S et al. (2017)dbSNP CHCHD10_000009 - XY Liu
+/. 1 3 c.323A>C r.(323a>c) p.(Gln108Pro) - - g.24108401T>G Carina Lehmer, et al. (2018) CHCHD10_000020 - XY Liu
./. 1 3 c.330G>A r.(?) p.(=) - - g.24108394C>T Teyssou E et al. (2016) CHCHD10_000006 - XY Liu
+/. 1 3 c.364T>C r.(364u>c) p.(Cys122Arg) - - g.24108360A>G Carina Lehmer, et al. (2018) CHCHD10_000021 - XY Liu
?/. 1 3 c.379G>A r.(379g>a) p.(Glu127Lys) - - g.24108345C>T Carina Lehmer, et al. (2018) CHCHD10_000023 - XY Liu
./. 1 3i c.410-25G>A r.(?) p.(?) - - g.24108238C>T Shen S et al. (2017) CHCHD10_000011 - XY Liu
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