Genomic variant #0000184561

Individual ID 00114758
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2867413C>T
DNA change (hg38) g.2949372C>T
Published as T262T
ISCN -
DB-ID ARSE_000033 See all 2 reported entries
Variant remarks recurrent, found 6 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.05595 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARSE NM_000047.2 -?/. 6 c.786G>A - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115215 DNA SEQ - - ARSE 1 Lucy Raymond