Genomic variant #0000014268

Individual ID 00021222
Chromosome 1
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45797157G>T
Reference -
DB-ID MUTYH_000006 See all 9 reported entries
dbSNP ID rs144079536
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 0.00154
Allele Count 9
Allele Number 5858
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MUTYH NM_001048171.1 ?/? - c.1216C>A r.(?) p.(Leu406Met)
MUTYH NM_001048172.1 ?/? - c.1177C>A r.(?) p.(Leu393Met)
MUTYH NM_001048173.1 ?/? - c.1174C>A r.(?) p.(Leu392Met)
MUTYH NM_001048174.1 ?/? - c.1174C>A r.(?) p.(Leu392Met)
MUTYH NM_001128425.1 ?/? - c.1258C>A r.(?) p.(Leu420Met)
MUTYH NM_012222.2 ?/? - c.1249C>A r.(?) p.(Leu417Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000369 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou