Genomic variant #0000043679

Individual ID 00022096
Chromosome 17
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7578210T>C
Reference -
DB-ID TP53_000050 See all 3 reported entries
dbSNP ID rs1800372
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00051
Allele Count 3
Allele Number 5940
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 ./. - c.639A>G r.(=) p.(=)
TP53 NM_001126112.2 ./. - c.639A>G r.(=) p.(=)
TP53 NM_001126113.2 ./. - c.639A>G r.(=) p.(=)
TP53 NM_001126114.2 ./. - c.639A>G r.(=) p.(=)
TP53 NM_001126115.1 ./. - c.243A>G r.(=) p.(=)
TP53 NM_001126116.1 ./. - c.243A>G r.(=) p.(=)
TP53 NM_001126117.1 ./. - c.243A>G r.(=) p.(=)
TP53 NM_001126118.1 ./. - c.522A>G r.(=) p.(=)
TP53 NM_001276695.1 ./. - c.522A>G r.(=) p.(=)
TP53 NM_001276696.1 ./. - c.522A>G r.(=) p.(=)
TP53 NM_001276697.1 ./. - c.162A>G r.(=) p.(=)
TP53 NM_001276698.1 ./. - c.162A>G r.(=) p.(=)
TP53 NM_001276699.1 ./. - c.162A>G r.(=) p.(=)
TP53 NM_001276760.1 ./. - c.522A>G r.(=) p.(=)
TP53 NM_001276761.1 ./. - c.522A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007594 DNA SEQ-NG-I 1 - 37 Stevi Xera