Genomic variant #0000036831

Individual ID 00015337
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579360_7579363dup
Reference -
DB-ID TP53_000037 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 Variant not found in online data sets
Allele Count 0
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.324_327dup r.(?) p.(Arg110Phefs*40)
TP53 NM_001126112.2 +/+ - c.324_327dup r.(?) p.(Arg110Phefs*40)
TP53 NM_001126113.2 +/+ - c.324_327dup r.(?) p.(Arg110Phefs*40)
TP53 NM_001126114.2 +/+ - c.324_327dup r.(?) p.(Arg110Phefs*40)
TP53 NM_001126115.1 +/+ - c.-830_-827dup r.(=) p.(=)
TP53 NM_001126116.1 +/+ - c.-830_-827dup r.(=) p.(=)
TP53 NM_001126117.1 +/+ - c.-830_-827dup r.(=) p.(=)
TP53 NM_001126118.1 +/+ - c.207_210dup r.(?) p.(Arg71Phefs*40)
TP53 NM_001276695.1 +/+ - c.207_210dup r.(?) p.(Arg71Phefs*40)
TP53 NM_001276696.1 +/+ - c.207_210dup r.(?) p.(Arg71Phefs*40)
TP53 NM_001276697.1 +/+ - c.-911_-908dup r.(=) p.(=)
TP53 NM_001276698.1 +/+ - c.-911_-908dup r.(=) p.(=)
TP53 NM_001276699.1 +/+ - c.-911_-908dup r.(=) p.(=)
TP53 NM_001276760.1 +/+ - c.207_210dup r.(?) p.(Arg71Phefs*40)
TP53 NM_001276761.1 +/+ - c.207_210dup r.(?) p.(Arg71Phefs*40)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004653 DNA SEQ-NG 0 - 1 Despoina Kalfakakou