Variant #0000001393 (NC_000017.10:g.42426634delC, GRN(NM_002087.2):c.102delC)

Individual ID 00001393
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42426634delC
Reference Skoglund L1, Brundin R, Olofsson T, Kalimo H, Ingvast S, Blom ES, Giedraitis V, Ingelsson M, Lannfelt L, Basun H, Glaser A.(2009)
DB-ID GRN_000049 See all 2 reported entries
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     
GRN NM_002087.2 ./. 2 c.102delC r.(?) p.(Gly35Glufs*19) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001393 ? ? GRN 1 Y Yang