Variant #0000640620 (NC_000007.13:g.92151439_92151440insA, PEX1(NM_000466.2):c.249_250insT)

Individual ID 00283728
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.92151439_92151440insA
DNA change (hg38) g.92522125_92522126insA
Published as -
ISCN -
DB-ID PEX1_000252
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Thoms 2011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/+ 2 c.249_250insT r.(?) p.(Leu84Serfs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284878 DNA ? - - PEX1 1 Global Variome, with Curator vacancy