Variant #0000640268 (NC_000006.11:g.42946379dup, PEX6(NM_000287.3):c.510dup)

Individual ID 00283376
Chromosome 6
Allele Both (homozygous)
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.42946379dup
DNA change (hg38) g.42978641dup
Published as 511insT
ISCN -
DB-ID PEX6_000007
Variant remarks -
Reference PubMed: Fukuda 1996, MORL Deafness Variation Database
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nancy Braverman
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 +/. 1 c.510dup r.510dup p.Gly171Trpfs*71



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284526 DNA;RNA RT-PCR;SEQ - - PEX6 1 Global Variome, with Curator vacancy