Genomic variant #0000021676

Individual ID 00017135
Chromosome 8
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.118832021G>C
Reference -
DB-ID EXT1_000005 See all 5 reported entries
dbSNP ID rs145720047
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 0.00087
Allele Count 5
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT1 NM_000127.2 ?/? - c.1430C>G r.(?) p.(Pro477Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000848 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou