Genomic variant #0000041125

Individual ID 00016911
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.32417857T>G
Reference -
DB-ID WT1_000038 See all 2 reported entries
dbSNP ID -
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WT1 NM_000378.4 ?/? - c.1144A>C r.(?) p.(Asn382His)
WT1 NM_001198551.1 ?/? - c.559A>C r.(?) p.(Asn187His)
WT1 NM_001198552.1 ?/? - c.508A>C r.(?) p.(Asn170His)
WT1 NM_024424.3 ?/? - c.1195A>C r.(?) p.(Asn399His)
WT1 NM_024426.4 ?/? - c.1195A>C r.(?) p.(Asn399His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007514 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou