Variant #0000001882 (NC_000006.11:g.137143923C>A, PEX7(NM_000288.3):c.120C>A)

Individual ID 00001882
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.137143923C>A
Reference van den Brink DM1, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ.(2003)
DB-ID PEX7_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
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     
PEX7 NM_000288.3 ./. 1 c.120C>A r.(?) p.(Tyr40*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001882 ? ? PEX7 1 Y Yang