Genomic variant #0000184570

Individual ID 00114765
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.2864081C>T
DNA change (hg38) g.2946040C>T
Published as -
ISCN -
DB-ID ARSE_000008 See all 4 reported entries
Variant remarks -
Reference submitted 2009
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 Gene Dx




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARSE NM_000047.2 +/. 07 c.949G>A - r.(?) p.(G317R)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115222 DNA SEQ - - ARSE 1 Gene Dx