Genomic variant #0000030143

Individual ID 00015279
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.116435923_116435926del
Reference -
DB-ID MET_000062
dbSNP ID rs72070212
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     
MET NM_000245.2 ?/? - c.3936-18_3936-15del r.(=) p.(=)
MET NM_001127500.1 ?/? - c.3990-18_3990-15del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001663 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou