Genomic variant #0000184568

Individual ID 00114763
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 PubMed: Sheffield 1998
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




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     
0000115220 DNA SEQ - - ARSE 1 Claudia Matos-Miranda