Variant #0000686594 (NC_000006.11:g.42946359del, PEX6(NM_000287.3):c.530del)

Individual ID 00283382
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.42946359del
DNA change (hg38) -
Published as 530delC
ISCN -
DB-ID PEX6_000022
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) 4.0E-5 View details
Owner Nancy Braverman
Database submission license Creative Commons Attribution 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     
PEX6 NM_000287.3 +/. - c.530del r.(?) p.(Pro177Hisfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284532 DNA;RNA RT-PCR;SEQ - - PEX6 2 Nancy Braverman