Genomic variant #0000059111

Individual ID 00033437
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6331817C>T
DNA change (hg38) g.6428497C>T
Published as 286G>A (GTC>ATC)
ISCN -
DB-ID AIPL1_000001 See all 12 reported entries
Variant remarks heterozygous substitution
Reference PubMed: Sohocki 2000
ClinVar ID -
dbSNP ID rs62619924
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01668 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.286G>A r.(?) p.(Val96Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033505 DNA SSCA;SEQ;PCR - - AIPL1 2 Raheel Qamar