R260Q |
| Detail variant |
| Location in the gene |
exon 3 |
Usual name
Name as first published or submitted to Infevers.
May be different from the HGVS edited protein and sequence names.
|
R260Q |
| HGVS protein name |
p.(Arg260Gln) |
| HGVS sequence name |
c.779G>A |
| rs Number |
- |
| Sequence |
cDNA: TCTATATCCACTGTCGAGAGGTGAGCCTTGT |
| Alteration |
Substitution |
|
N base(s)
|
1
|
|
Base substituded
|
G>A |
Pathogenicity score/Status
If you have new data: please send us a re-evaluation proposal here |
Not classified
|
Population Frequencies
GnomAD v2.1.1 via Annovar |
See data
Hide data
| |
African |
Ashkenazi Jewish |
East Asian |
European
(Finnish) |
European
(non-Finnish) |
Latino |
South Asian |
Other |
Total |
| Exome |
. |
. |
. |
. |
. |
. |
. |
. |
. |
| Genome |
. |
. |
. |
. |
. |
. |
. |
. |
. |
|
| Using In silico prediction? |
Unknown
|
| Functional tests |
No |
| Functional approach |
Not applicable
|
| Consequence |
Not applicable |
| Technique(s) used |
Sequencing Sanger
|
Phenotype
a variant observed in symptomatic subjects does not imply its causal role |
| Disease related symptoms in this patient |
Symptomatic |
|
Associated phenotype in this patient
|
CAPS
|
| Country of origin / Ancestry |
Iran, islamic republic of / Caucasian |
| Contribution |
| Reference |
Hosseini-Asl, SS; Salehzadeh F
Personal communication |
| Contributed by |
S Saied HOSSEINI-ASL
|
| Comment |
- |
| Input date |
2016-05-23 |
