Variant #0000640273 (NC_000006.11:g.42946820_42946879del, PEX6(NM_000287.3):c.10_69del)

Individual ID 00283381
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.42946820_42946879del
DNA change (hg38) -
Published as [10_69del;126_217del]
ISCN -
DB-ID PEX6_000004 See all 3 reported entries
Variant remarks no variant 2nd chromosome reported
Reference PubMed: Ebberink 2010
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 +/. 1 c.10_69del r.(?) p.(Ala4_Leu23del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284531 DNA SEQ - - PEX6 2 Global Variome, with Curator vacancy