Genomic variant #0000018836

Individual ID 00016871
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.7578289C>A
Reference -
DB-ID TP53_000010
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 0.00017
Allele Count 1
Allele Number 5792
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 ?/? - c.560G>T r.(?) p.(Gly187Val)
TP53 NM_001126112.2 ?/? - c.560G>T r.(?) p.(Gly187Val)
TP53 NM_001126113.2 ?/? - c.560G>T r.(?) p.(Gly187Val)
TP53 NM_001126114.2 ?/? - c.560G>T r.(?) p.(Gly187Val)
TP53 NM_001126115.1 ?/? - c.164G>T r.(?) p.(Gly55Val)
TP53 NM_001126116.1 ?/? - c.164G>T r.(?) p.(Gly55Val)
TP53 NM_001126117.1 ?/? - c.164G>T r.(?) p.(Gly55Val)
TP53 NM_001126118.1 ?/? - c.443G>T r.(?) p.(Gly148Val)
TP53 NM_001276695.1 ?/? - c.443G>T r.(?) p.(Gly148Val)
TP53 NM_001276696.1 ?/? - c.443G>T r.(?) p.(Gly148Val)
TP53 NM_001276697.1 ?/? - c.83G>T r.(?) p.(Gly28Val)
TP53 NM_001276698.1 ?/? - c.83G>T r.(?) p.(Gly28Val)
TP53 NM_001276699.1 ?/? - c.83G>T r.(?) p.(Gly28Val)
TP53 NM_001276760.1 ?/? - c.443G>T r.(?) p.(Gly148Val)
TP53 NM_001276761.1 ?/? - c.443G>T r.(?) p.(Gly148Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000610 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou