Genomic variant #0000001315
Individual ID |
00000019 |
Chromosome |
X |
Allele |
Both (homozygous) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.70352417T>C |
DNA change (hg38) |
g.71132567T>C |
Published as |
- |
ISCN |
- |
DB-ID |
MED12_000021 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Almomani 2011 |
ClinVar ID |
- |
dbSNP ID |
rs10521349 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.23861 View details |
Owner |
Gerard C.P. Schaafsma |
Variant on transcripts
Screenings
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