Genomic variant #0000022297

Individual ID 00017245
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.96920735T>C
Reference -
DB-ID TMEM127_000007 See all 2 reported entries
dbSNP ID -
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM127 NM_001193304.2 ?/? - c.245A>G r.(?) p.(Asp82Gly)
TMEM127 NM_017849.3 ?/? - c.245A>G r.(?) p.(Asp82Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000903 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou