Genomic variant #0000030809

Individual ID 00021549
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.32456726G>T
Reference -
DB-ID WT1_000031
dbSNP ID rs2234581
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 0.00017
Allele Count 1
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.166C>A r.(=) p.(=)
WT1 NM_001198551.1 ?/? - c.-4641C>A r.(=) p.(=)
WT1 NM_001198552.1 ?/? - c.-4641C>A r.(=) p.(=)
WT1 NM_024424.3 ?/? - c.166C>A r.(=) p.(=)
WT1 NM_024426.4 ?/? - c.166C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001728 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou