Variant #0000000824 (NC_000017.10:g.3392529_3392636del108, ASPA(NM_000049.2):c.527_634del108)

Individual ID 00000824
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3392529_3392636del108
Reference Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)
DB-ID ASPA_000055
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     
ASPA NM_000049.2 ./. 4 c.527_634del108 r.spl? p.? VariO:0141 DNA deletion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000824 ? ? ASPA 1 Y Yang