Variant #0000006015 (NC_000009.11:g.27573527GGCCCC[30,?], C9orf72(NM_001256054.3):c.-45+168CGGGGC[30,?])

Individual ID 00006029
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27573527GGCCCC[30,?]
Reference Cooper-Knock J et al. (2012)
DB-ID C9orf72_000004
Frequency -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C9orf72 NM_001256054.3 ?/. 1i c.-45+168CGGGGC[30,?] r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006050 ? ? C9orf72 1 XY Liu