Variant #0000640270 (NC_000006.11:g.42946487del, PEX6(NM_000287.3):c.402del)

Individual ID 00283378
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.42946487del
DNA change (hg38) g.42978751del
Published as 402delC
ISCN -
DB-ID PEX6_000023 See all 2 reported entries
Variant remarks -
Reference PubMed: Zhang 1999, 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.402del r.402del p.Gly135Aspfs*23



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284528 DNA;RNA RT-PCR;SEQ - - PEX6 1 Nancy Braverman