Variant #0000006571 (NC_000017.10:g.42427661T>C, GRN(NM_002087.2):c.415T>C)

Individual ID 00006578
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42427661T>C
Reference Kang Zhang, et al. (2020)
DB-ID GRN_000010 See all 4 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
GRN NM_002087.2 +/. 5 c.415T>C r.(?) p.(Cys139Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006603 ? ? GRN, NEK1 2 XY Liu