Genomic variant #0000001350

Individual ID 00016092
Chromosome 11
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.67250676G>A
Reference -
DB-ID AIP_000009 See all 46 reported entries
dbSNP ID rs145047094
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.0078
Allele Count 46
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIP NM_003977.2 -?/-? - c.47G>A r.(?) p.(Arg16His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou