Genomic variant #0000028630

Individual ID 00020450
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.7577091G>A
Reference Fostira et al (2020), Kato et al (2003), Monti et al (2011), Evans et al (2019), Jagosova et al (2012)
DB-ID TP53_000001 See all 17 reported entries
dbSNP ID  rs149633775
Variant remarks Low-risk allele
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 0.00138
Allele Count 8
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.847C>T r.(?) p.(Arg283Cys)
TP53 NM_001126112.2 +?/+? - c.847C>T r.(?) p.(Arg283Cys)
TP53 NM_001126113.2 +?/+? - c.847C>T r.(?) p.(Arg283Cys)
TP53 NM_001126114.2 +?/+? - c.847C>T r.(?) p.(Arg283Cys)
TP53 NM_001126115.1 +?/+? - c.451C>T r.(?) p.(Arg151Cys)
TP53 NM_001126116.1 +?/+? - c.451C>T r.(?) p.(Arg151Cys)
TP53 NM_001126117.1 +?/+? - c.451C>T r.(?) p.(Arg151Cys)
TP53 NM_001126118.1 +?/+? - c.730C>T r.(?) p.(Arg244Cys)
TP53 NM_001276695.1 +?/+? - c.730C>T r.(?) p.(Arg244Cys)
TP53 NM_001276696.1 +?/+? - c.730C>T r.(?) p.(Arg244Cys)
TP53 NM_001276697.1 +?/+? - c.370C>T r.(?) p.(Arg124Cys)
TP53 NM_001276698.1 +?/+? - c.370C>T r.(?) p.(Arg124Cys)
TP53 NM_001276699.1 +?/+? - c.370C>T r.(?) p.(Arg124Cys)
TP53 NM_001276760.1 +?/+? - c.730C>T r.(?) p.(Arg244Cys)
TP53 NM_001276761.1 +?/+? - c.730C>T r.(?) p.(Arg244Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001526 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou