Variant #0000052400 (NC_000012.11:g.122079377C>T, NM_032790.3:c.740C>T (ORAI1))
Individual ID |
00029010 |
Chromosome |
12 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.122079377C>T |
DNA change (hg38) |
- |
Published as |
734C>T (Pro244Leu) |
ISCN |
- |
DB-ID |
ORAI1_000003 |
Variant remarks |
functional analysis variant Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. |
Reference |
PubMed: Nesin 2014, OMIM:var0002 |
ClinVar ID |
- |
dbSNP ID |
rs587777528 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2015-01-18 10:50:28 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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