Variant #0000687251 (NC_000007.13:g.92157695_92157696del, PEX1(NM_000466.2):c.56_57del)

Individual ID 00310535
Chromosome 7
Allele Parent #2
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.92157695_92157696del
DNA change (hg38) g.92528381_92528382del
Published as 56_57delTG
ISCN -
DB-ID PEX1_000051 See all 2 reported entries
Variant remarks both mutations identified in Waterham clinical lab.
Reference -
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     
PEX1 NM_000466.2 +/. 1 c.56_57del r.(?) p.(Val19Glyfs*48)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311687 DNA SEQ - - PEX1 2 Nancy Braverman