Genomic variant #0000184538

Individual ID 00114740
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.2871282C>G
DNA change (hg38) g.2953241C>G
Published as -
ISCN -
DB-ID ARSE_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Franco Cell. 1995; OMIM:var0003
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 +/. 5 c.332G>C r.(?) p.(R111P)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115197 DNA SSCA;SEQ - - ARSE 1 Claudia Matos-Miranda