Genomic variant #0000163511

Individual ID 00100647
Chromosome 11
Allele Maternal (confirmed)
Affects function (reported) Does not affect function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44148505G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID EXT2_000391
Variant remarks -
Reference -
dbSNP ID rs138187791
Germline/Somatic/De novo Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Patrizia De Marco




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
EXT2 NM_000401.3 -/. 6 c.1178G>A - r.spl? p.(Arg393Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101067 DNA SEQ-NG-I blood - EXT2 1 Patrizia De Marco