Variant #0000001891 (NC_000008.10:g.75276369C>T, GDAP1(NM_018972.2):c.844C>T)

Individual ID 00001891
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75276369C>T
Reference Nelis E1, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabre?ls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V.(2002)
DB-ID GDAP1_000005
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
GDAP1 NM_018972.2 ./. 6 c.844C>T r.(?) p.(Arg282Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001891 ? ? GDAP1 1 Y Yang