Genomic variant #0000184555

Individual ID 00114727
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2867650G>A
DNA change (hg38) g.2949609G>A
Published as -
ISCN -
DB-ID ARSE_000041
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs5982618
Origin Germline
Segregation -
Frequency 0.00-0.08
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.04033 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 ?/. 6 c.549C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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