Genomic variant #0000021475

Individual ID 00017108
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.7579895T>G
Reference -
DB-ID TP53_000015
dbSNP ID  rs573130482
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 0.00017
Allele Count 1
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.18A>C r.(=) p.(=)
TP53 NM_001126112.2 -?/-? - c.18A>C r.(=) p.(=)
TP53 NM_001126113.2 -?/-? - c.18A>C r.(=) p.(=)
TP53 NM_001126114.2 -?/-? - c.18A>C r.(=) p.(=)
TP53 NM_001126115.1 -?/-? - c.-1362A>C r.(=) p.(=)
TP53 NM_001126116.1 -?/-? - c.-1362A>C r.(=) p.(=)
TP53 NM_001126117.1 -?/-? - c.-1362A>C r.(=) p.(=)
TP53 NM_001126118.1 -?/-? - c.-217A>C r.(=) p.(=)
TP53 NM_001276695.1 -?/-? - c.-100A>C r.(=) p.(=)
TP53 NM_001276696.1 -?/-? - c.-100A>C r.(=) p.(=)
TP53 NM_001276697.1 -?/-? - c.-1443A>C r.(=) p.(=)
TP53 NM_001276698.1 -?/-? - c.-1443A>C r.(=) p.(=)
TP53 NM_001276699.1 -?/-? - c.-1443A>C r.(=) p.(=)
TP53 NM_001276760.1 -?/-? - c.-100A>C r.(=) p.(=)
TP53 NM_001276761.1 -?/-? - c.-100A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000824 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou