Genomic variant #0000187931

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21860960G>C
DNA change (hg38) g.21842842G>C
Published as -
ISCN -
DB-ID MBTPS2_000003 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs6528056
Origin Germline
Segregation -
Frequency 0.24
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Emmelien Aten
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 ?/. 1i c.76-328G>C - r.(?) p.?