Variant #0000686902 (NC_000006.11:g.137191043G>A, PEX7(NM_000288.3):c.649G>A)

Individual ID 00310238
Chromosome 6
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.137191043G>A
DNA change (hg38) g.136869905G>A
Published as -
ISCN -
DB-ID PEX7_000006 See all 12 reported entries
Variant remarks -
Reference PubMed: Braverman 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 +/. 7 c.649G>A r.(?) p.(Gly217Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311387 DNA ASO - - PEX7 2 Nancy Braverman