Variant #0000640247 (NC_000006.11:g.42942745del, PEX6(NM_000287.3):c.914del)

Individual ID 00283355
Chromosome 6
Allele Parent #1
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.42942745del
DNA change (hg38) g.42975007del
Published as 914delA
ISCN -
DB-ID PEX6_000058 See all 2 reported entries
Variant remarks -
Reference PubMed: Yik 2009, 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 Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/. 2 c.914del r.(?) p.(Asp305Alafs*46)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284505 DNA SEQ - - PEX6 3 Global Variome, with Curator vacancy