Screening #0000033534

Individual ID 00033466
Template DNA
Technique SSCA;SEQ;PCR
Tissue -
Remarks -
Variants found? 2
Owner name Raheel Qamar


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 17 p13.1 1 481 107 2018-12-04 LCA-4



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
17 Parent #1 ?/. g.6330356G>A - 487C>T (CAG>TAG) - AIPL1_000066 homozygous PubMed: Sohocki 2000 - rs62637009 Germline - - - 0 - Raheel Qamar AIPL1 - - - - - 4 NM_014336.3:c.487C>T - - r.(?) p.(Gln163*) - - - - - - - - - - - - - - - - - - -
17 Parent #2 ?/. g.6330356G>A - 487C>T (CAG>TAG) - AIPL1_000066 homozygous PubMed: Sohocki 2000 - rs62637009 Germline - - - 0 - Raheel Qamar AIPL1 - - - - - 4 NM_014336.3:c.487C>T - - r.(?) p.(Gln163*) - - - - - - - - - - - - - - - - - - -
Legend