Variant #0000640278 (NC_000006.11:g.42946076C>A, PEX6(NM_000287.3):c.813G>T)

Individual ID 00283386
Chromosome 6
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946076C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX6_000143 See all 3 reported entries
Variant remarks -
Reference PubMed: Steinberg 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.013
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00137 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 -/. - c.813G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284536 DNA SEQ - - PEX6 1 Global Variome, with Curator vacancy