Genomic variant #0000023638

Individual ID 00017377
Chromosome 7
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.116339642G>T
Reference -
DB-ID MET_000018 See all 6 reported entries
dbSNP ID rs55985569
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 0.00104
Allele Count 6
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.504G>T r.(?) p.(Glu168Asp)
MET NM_001127500.1 -?/-? - c.504G>T r.(?) p.(Glu168Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001043 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou