Variant #0000640604 (NC_000007.13:g.92147155A>T, PEX1(NM_000466.2):c.674T>A)

Individual ID 00283712
Chromosome 7
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.92147155A>T
DNA change (hg38) g.92517841A>T
Published as -
ISCN -
DB-ID PEX1_000271
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Bean 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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 ?/? 5 c.674T>A r.(?) p.(Ile225Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284862 DNA ? - - PEX1 1 Global Variome, with Curator vacancy