Genomic variant #0000640263

Individual ID 00283371
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.42946233T>G
DNA change (hg38) g.42978495T>G
Published as -
ISCN -
DB-ID PEX6_000216
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Ebberink 2010
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD-team, but with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/+ 1 c.656A>C r.(?) p.(Gln219Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284521 DNA ? - - PEX6 1 LOVD-team, but with Curator vacancy