Variant #0000001885 (NC_000008.10:g.75272410_75272411insT, GDAP1(NM_018972.2):c.349_350insT)

Individual ID 00001885
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75272410_75272411insT
Reference Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003)
DB-ID GDAP1_000013
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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 ./. 2 c.349_350insT r.(?) p.(Tyr117Leufs*13) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001885 ? ? GDAP1 1 Y Yang