Genomic variant #0000027248

Individual ID 00020526
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.116380062A>G
Reference -
DB-ID MET_000020 See all 8 reported entries
dbSNP ID  rs781545528
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 0.00136
Allele Count 8
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MET NM_000245.2 ?/? - c.1451A>G r.(?) p.(His484Arg)
MET NM_001127500.1 ?/? - c.1451A>G r.(?) p.(His484Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001405 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou