Genomic variant #0000036120

Individual ID 00017977
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.44129782A>C
Reference -
DB-ID EXT2_000023 See all 4 reported entries
dbSNP ID rs111589746
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 0.0007
Allele Count 4
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT2 NM_000401.3 ?/? - c.619A>C r.(?) p.(Met207Leu)
EXT2 NM_001178083.1 ?/? - c.520A>C r.(?) p.(Met174Leu)
EXT2 NM_207122.1 ?/? - c.520A>C r.(?) p.(Met174Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002217 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou