Genomic variant #0000043341

Individual ID 00022086
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579472G>C
Reference -
DB-ID TP53_000048 See all 71 reported entries
dbSNP ID rs1042522
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 0.01768
Allele Count 105
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.215C>G r.(?) p.(Pro72Arg)
TP53 NM_001126112.2 ./. - c.215C>G r.(?) p.(Pro72Arg)
TP53 NM_001126113.2 ./. - c.215C>G r.(?) p.(Pro72Arg)
TP53 NM_001126114.2 ./. - c.215C>G r.(?) p.(Pro72Arg)
TP53 NM_001126115.1 ./. - c.-939C>G r.(=) p.(=)
TP53 NM_001126116.1 ./. - c.-939C>G r.(=) p.(=)
TP53 NM_001126117.1 ./. - c.-939C>G r.(=) p.(=)
TP53 NM_001126118.1 ./. - c.98C>G r.(?) p.(Pro33Arg)
TP53 NM_001276695.1 ./. - c.98C>G r.(?) p.(Pro33Arg)
TP53 NM_001276696.1 ./. - c.98C>G r.(?) p.(Pro33Arg)
TP53 NM_001276697.1 ./. - c.-1020C>G r.(=) p.(=)
TP53 NM_001276698.1 ./. - c.-1020C>G r.(=) p.(=)
TP53 NM_001276699.1 ./. - c.-1020C>G r.(=) p.(=)
TP53 NM_001276760.1 ./. - c.98C>G r.(?) p.(Pro33Arg)
TP53 NM_001276761.1 ./. - c.98C>G r.(?) p.(Pro33Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007584 DNA SEQ-NG-I 1 - 55 Stevi Xera