Genomic variant #0000023990

Individual ID 00017422
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.45798855G>C
Reference -
DB-ID MUTYH_000002 See all 6 reported entries
dbSNP ID rs201207780
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 0.00102
Allele Count 6
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.347-13C>G r.(=) p.(=)
MUTYH NM_001048172.1 -?/-? - c.308-13C>G r.(=) p.(=)
MUTYH NM_001048173.1 -?/-? - c.305-13C>G r.(=) p.(=)
MUTYH NM_001048174.1 -?/-? - c.305-13C>G r.(=) p.(=)
MUTYH NM_001128425.1 -?/-? - c.389-13C>G r.(=) p.(=)
MUTYH NM_012222.2 -?/-? - c.380-13C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001078 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou