Variant #0000651967 (NC_000006.11:g.42946228C>A, PEX6(NM_000287.3):c.661G>T)

Individual ID 00294110
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946228C>A
DNA change (hg38) g.42978490C>A
Published as -
ISCN -
DB-ID PEX6_000213 See all 2 reported entries
Variant remarks 10 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs786205580
Origin Germline
Segregation -
Frequency 10/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +?/. - c.661G>T r.(?) p.(Glu221Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295278 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq