Genomic variant #0000042111

Individual ID 00022048
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.7579579C>T
Reference -
DB-ID TP53_000049 See all 5 reported entries
dbSNP ID rs1800370
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 0.00084
Allele Count 5
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.108G>A r.(=) p.(=)
TP53 NM_001126112.2 ./. - c.108G>A r.(=) p.(=)
TP53 NM_001126113.2 ./. - c.108G>A r.(=) p.(=)
TP53 NM_001126114.2 ./. - c.108G>A r.(=) p.(=)
TP53 NM_001126115.1 ./. - c.-1046G>A r.(=) p.(=)
TP53 NM_001126116.1 ./. - c.-1046G>A r.(=) p.(=)
TP53 NM_001126117.1 ./. - c.-1046G>A r.(=) p.(=)
TP53 NM_001126118.1 ./. - c.-10G>A r.(=) p.(=)
TP53 NM_001276695.1 ./. - c.-10G>A r.(=) p.(=)
TP53 NM_001276696.1 ./. - c.-10G>A r.(=) p.(=)
TP53 NM_001276697.1 ./. - c.-1127G>A r.(=) p.(=)
TP53 NM_001276698.1 ./. - c.-1127G>A r.(=) p.(=)
TP53 NM_001276699.1 ./. - c.-1127G>A r.(=) p.(=)
TP53 NM_001276760.1 ./. - c.-10G>A r.(=) p.(=)
TP53 NM_001276761.1 ./. - c.-10G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007545 DNA SEQ-NG-I 1 - 45 Stevi Xera