Variant #0000686220 (NC_000001.10:g.(10555379_10596269)_(10596355_10659294)del, PEX14(NM_004565.2):c.(84+1_85-1)_(169+1_170-1)del)

Individual ID 00309899
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.(10555379_10596269)_(10596355_10659294)del
DNA change (hg38) g.(10495322_10536212)_(10536298_10599237)del
Published as 85-?_170+?del
ISCN -
DB-ID PEX14_000002
Variant remarks 41 kb deletion
Reference PubMed: Huybrechts 2008
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 Nancy Braverman
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 +/. 2i_3i c.(84+1_85-1)_(169+1_170-1)del r.85_169del p.Ile29fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311045 DNA;RNA RT-PCR;SEQ - - PEX14 1 Nancy Braverman