Genomic variant #0000029778

Individual ID 00020417
Chromosome 8
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118832021G>C
Reference -
DB-ID EXT1_000005 See all 5 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.0012
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     
0000001630 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou