Genomic variant #0000195503

Individual ID 00118935
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.44146491G>A
DNA change (hg38) g.44124941G>A
Published as (Protein: Codon 299, CGC>CAC)
ISCN -
DB-ID EXT2_000143
Variant remarks Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Arg & His (Grantham dist.: 29 [0-215]), This variation is in protein domain: Exostosin-like.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ivy Jennes




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EXT2 NM_207122.1 +?/+? 5 c.896G>A - r.(?) p.(Arg299His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000119398 DNA SEQ - - EXT2 1 Ivy Jennes