Variant #0000686189 (NC_000001.10:g.160252760del, PEX19(NM_002857.3):c.320del)

Individual ID 00309875
Chromosome 1
Allele Both (homozygous)
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.160252760del
DNA change (hg38) -
Published as 320delA
ISCN -
DB-ID PEX19_000002
Variant remarks -
Reference PubMed: Mohamed 2010
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 Nancy Braverman
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX19 NM_002857.3 +/. 3 c.320del r.(?) p.(Lys107Serfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311020 DNA SEQ - - PEX19 1 Nancy Braverman