Genomic variant #0000018431

Individual ID 00016847
Chromosome 1
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.45797139G>A
Reference -
DB-ID MUTYH_000005 See all 8 reported entries
dbSNP ID rs150792276
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 0.00133
Allele Count 8
Allele Number 6006
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MUTYH NM_001048171.1 -?/-? - c.1234C>T r.(?) p.(Arg412Cys)
MUTYH NM_001048172.1 -?/-? - c.1195C>T r.(?) p.(Arg399Cys)
MUTYH NM_001048173.1 -?/-? - c.1192C>T r.(?) p.(Arg398Cys)
MUTYH NM_001048174.1 -?/-? - c.1192C>T r.(?) p.(Arg398Cys)
MUTYH NM_001128425.1 -?/-? - c.1276C>T r.(?) p.(Arg426Cys)
MUTYH NM_012222.2 -?/-? - c.1267C>T r.(?) p.(Arg423Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000574 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou