Genomic variant #0000184535

Individual ID 00114737
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.2873525A>T
DNA change (hg38) g.2955484A>T
Published as -
ISCN -
DB-ID ARSE_000014 See all 2 reported entries
Variant remarks -
Reference PubMed: Brunetti-Pierri 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Claudia Matos-Miranda
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARSE NM_000047.2 +?/. 4 c.239T>A r.(?) p.I80N



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115194 DNA SEQ - - ARSE 1 Claudia Matos-Miranda