Genomic variant #0000031383

Individual ID 00021594
Chromosome 2
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.96920587G>A
Reference -
DB-ID TMEM127_000012
dbSNP ID rs756680897
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     
TMEM127 NM_001193304.2 -?/-? - c.393C>T r.(=) p.(=)
TMEM127 NM_017849.3 -?/-? - c.393C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001778 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou