Genomic variant #0000184554

Individual ID 00114727
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.2867651C>T
DNA change (hg38) g.2949610C>T
Published as -
ISCN -
DB-ID ARSE_000031 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs34412194
Origin Germline
Segregation -
Frequency 0.00-0.06
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.016 View details
Owner Claudia Matos-Miranda
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARSE NM_000047.2 ?/. 6 c.548G>A r.(?) p.(R183H)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115184 DNA SEQ - - ARSE 9 Claudia Matos-Miranda