Genomic variant #0000059504

Individual ID 00033433
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6337247C>G
DNA change (hg38) g.6433927C>G
Published as 286G>C
ISCN -
DB-ID AIPL1_000078 See all 11 reported entries
Variant remarks SNP
Reference PubMed: HeegaarD2003
ClinVar ID -
dbSNP ID rs12449580
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.16539 View details
Owner Raheel Qamar
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIPL1 NM_014336.3 +?/. 2 c.268G>C r.(?) p.(Asp90His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033501 DNA PCR;SEQ;SSCA - - AIPL1 2 Raheel Qamar