Genomic variant #0000032985

Individual ID 00017834
Chromosome 2
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.190728895T>C
Reference -
DB-ID PMS1_000052
dbSNP ID rs150341545
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS1 NM_000534.4 -?/-? - c.2283T>C r.(=) p.(=)
PMS1 NM_001128143.1 -?/-? - c.2166T>C r.(=) p.(=)
PMS1 NM_001128144.1 -?/-? - c.1857-3630T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001923 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou