Genomic variant #0000002713

Individual ID 00016310
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7578146T>C
Reference -
DB-ID TP53_000002 See all 25 reported entries
dbSNP ID rs34949160
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 0.0043
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -/- - c.672+31A>G r.(=) p.(=)
TP53 NM_001126112.2 -/- - c.672+31A>G r.(=) p.(=)
TP53 NM_001126113.2 -/- - c.672+31A>G r.(=) p.(=)
TP53 NM_001126114.2 -/- - c.672+31A>G r.(=) p.(=)
TP53 NM_001126115.1 -/- - c.276+31A>G r.(=) p.(=)
TP53 NM_001126116.1 -/- - c.276+31A>G r.(=) p.(=)
TP53 NM_001126117.1 -/- - c.276+31A>G r.(=) p.(=)
TP53 NM_001126118.1 -/- - c.555+31A>G r.(=) p.(=)
TP53 NM_001276695.1 -/- - c.555+31A>G r.(=) p.(=)
TP53 NM_001276696.1 -/- - c.555+31A>G r.(=) p.(=)
TP53 NM_001276697.1 -/- - c.195+31A>G r.(=) p.(=)
TP53 NM_001276698.1 -/- - c.195+31A>G r.(=) p.(=)
TP53 NM_001276699.1 -/- - c.195+31A>G r.(=) p.(=)
TP53 NM_001276760.1 -/- - c.555+31A>G r.(=) p.(=)
TP53 NM_001276761.1 -/- - c.555+31A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000066 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou