Genomic variant #0000640245

Individual ID 00283353
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42941825C>T
DNA change (hg38) g.42974087C>T
Published as -
ISCN -
DB-ID PEX6_000200
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/+ 2i c.1047-1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284503 DNA SEQ - - PEX6 1 Global Variome, with Curator vacancy