Genomic variant #0000038148

Individual ID 00015244
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7574006A>C
Reference   Fostira et al (2020) Kato et al (2003)
DB-ID TP53_000036 See all 3 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 5792
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 +?/+? - c.1021T>G r.(?) p.(Phe341Val)
TP53 NM_001126112.2 +?/+? - c.1021T>G r.(?) p.(Phe341Val)
TP53 NM_001126113.2 +?/+? - c.*40T>G r.(=) p.(=)
TP53 NM_001126114.2 +?/+? - c.*128T>G r.(=) p.(=)
TP53 NM_001126115.1 +?/+? - c.625T>G r.(?) p.(Phe209Val)
TP53 NM_001126116.1 +?/+? - c.*128T>G r.(=) p.(=)
TP53 NM_001126117.1 +?/+? - c.*40T>G r.(=) p.(=)
TP53 NM_001126118.1 +?/+? - c.904T>G r.(?) p.(Phe302Val)
TP53 NM_001276695.1 +?/+? - c.*40T>G r.(=) p.(=)
TP53 NM_001276696.1 +?/+? - c.*128T>G r.(=) p.(=)
TP53 NM_001276697.1 +?/+? - c.544T>G r.(?) p.(Phe182Val)
TP53 NM_001276698.1 +?/+? - c.*128T>G r.(=) p.(=)
TP53 NM_001276699.1 +?/+? - c.*40T>G r.(=) p.(=)
TP53 NM_001276760.1 +?/+? - c.904T>G r.(?) p.(Phe302Val)
TP53 NM_001276761.1 +?/+? - c.904T>G r.(?) p.(Phe302Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005591 DNA SEQ-NG-I 1 - 1 Despoina Kalfakakou