Genomic variant #0000027928

Individual ID 00020571
Chromosome 7
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.116418845G>C
Reference -
DB-ID MET_000028 See all 4 reported entries
dbSNP ID rs201037977
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 0.0007
Allele Count 4
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MET NM_000245.2 ?/? - c.3356G>C r.(?) p.(Gly1119Ala)
MET NM_001127500.1 ?/? - c.3410G>C r.(?) p.(Gly1137Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001464 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou