Variant #0000000829 (NC_000017.10:g.3402316_3402319delAGAA, ASPA(NM_000049.2):c.876_879delAGAA)

Individual ID 00000829
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3402316_3402319delAGAA
Reference Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)
DB-ID ASPA_000047
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ASPA NM_000049.2 ./. 6 c.876_879delAGAA r.(?) p.(Glu293Leufs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000829 ? ? ASPA 1 Y Yang