Genomic variant #0000059484

Individual ID 00033447
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6331762G>A
DNA change (hg38) g.6428442G>A
Published as Thr114Ile
ISCN -
DB-ID AIPL1_000075 See all 11 reported entries
Variant remarks heterozygous deleterious variant
Reference PubMed: Dharmaraj 2004
ClinVar ID -
dbSNP ID rs8069375
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0193 View details
Owner Raheel Qamar
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIPL1 NM_014336.3 +/. 3 c.341C>T r.(?) p.(Thr114Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033515 DNA PCR;SSCA;SEQ - - AIPL1 2 Raheel Qamar