Genomic variant #0000021007

Individual ID 00017038
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7574013G>A
Reference -
DB-ID TP53_000013 See all 8 reported entries
dbSNP ID  rs150293825
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 0.00121
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -?/-? - c.1014C>T r.(=) p.(=)
TP53 NM_001126112.2 -?/-? - c.1014C>T r.(=) p.(=)
TP53 NM_001126113.2 -?/-? - c.*33C>T r.(=) p.(=)
TP53 NM_001126114.2 -?/-? - c.*121C>T r.(=) p.(=)
TP53 NM_001126115.1 -?/-? - c.618C>T r.(=) p.(=)
TP53 NM_001126116.1 -?/-? - c.*121C>T r.(=) p.(=)
TP53 NM_001126117.1 -?/-? - c.*33C>T r.(=) p.(=)
TP53 NM_001126118.1 -?/-? - c.897C>T r.(=) p.(=)
TP53 NM_001276695.1 -?/-? - c.*33C>T r.(=) p.(=)
TP53 NM_001276696.1 -?/-? - c.*121C>T r.(=) p.(=)
TP53 NM_001276697.1 -?/-? - c.537C>T r.(=) p.(=)
TP53 NM_001276698.1 -?/-? - c.*121C>T r.(=) p.(=)
TP53 NM_001276699.1 -?/-? - c.*33C>T r.(=) p.(=)
TP53 NM_001276760.1 -?/-? - c.897C>T r.(=) p.(=)
TP53 NM_001276761.1 -?/-? - c.897C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000782 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou