Genomic variant #0000059434

Individual ID 00033466
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6330356G>A
DNA change (hg38) -
Published as 487C>T (CAG>TAG)
ISCN -
DB-ID AIPL1_000066 See all 17 reported entries
Variant remarks homozygous
Reference PubMed: Sohocki 2000
ClinVar ID -
dbSNP ID rs62637009
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Raheel Qamar




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AIPL1 NM_014336.3 ?/. 4 c.487C>T - r.(?) p.(Gln163*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033534 DNA SSCA;SEQ;PCR - - AIPL1 2 Raheel Qamar