Variant #0000640256 (NC_000006.11:g.42946197_42946198insCT, PEX6(NM_000287.3):c.691_692insAG)

Individual ID 00283364
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.42946197_42946198insCT
DNA change (hg38) g.42978459_42978460insCT
Published as -
ISCN -
DB-ID PEX6_000209
Variant remarks -
Reference 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/+ 1 c.691_692insAG r.(?) p.(Ser231*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284514 DNA SEQ - - PEX6 1 Global Variome, with Curator vacancy