Genomic variant #0000041299

Individual ID 00022028
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.190708712G>A
Reference -
DB-ID PMS1_000062 See all 5 reported entries
dbSNP ID rs2066459
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00085
Allele Count 5
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS1 NM_000534.4 ./. - c.605G>A r.(?) p.(Arg202Lys)
PMS1 NM_001128143.1 ./. - c.583-8669G>A r.(=) p.(=)
PMS1 NM_001128144.1 ./. - c.605G>A r.(?) p.(Arg202Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007524 DNA SEQ-NG-I 1 - 36 Stevi Xera