Genomic variant #0000184543

Individual ID 00114745
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2871204C>G
DNA change (hg38) g.2953163C>G
Published as -
ISCN -
DB-ID ARSE_000007 See all 5 reported entries
Variant remarks -
Reference PubMed: Sheffield 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner Claudia Matos-Miranda




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARSE NM_000047.2 +/. 5 c.410G>C - r.(?) p.(G137A)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115202 DNA SEQ - - ARSE 1 Claudia Matos-Miranda