chr16:3243403:T>A Detail (hg38) (MEFV, LOC126862264)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:3,293,403-3,293,403 View the variant detail on this assembly version. |
| hg38 | chr16:3,243,403-3,243,403 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000243.2:c.2084A>T | NP_000234.1:p.Lys695Met |
| NM_001198536.1:c.*288A>T | ||
| Ensemble | ENST00000219596.6:c.2084A>T | ENST00000219596.6:p.Lys695Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2019-05-28 | criteria provided, single submitter | familial Mediterranean fever |
not provided
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.753 | familial Mediterranean fever | NA | CLINVAR | Detail | |
| 0.064 | amyloidosis | We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I,... | BeFree | 11029479 | Detail |
| 0.753 | familial Mediterranean fever | Mutational analysis of the PRYSPRY domain of pyrin and implications for familial... | UNIPROT | 16730661 | Detail |
| 0.753 | familial Mediterranean fever | MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. | UNIPROT | 10612841 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) AND Familial Mediterranean fever | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q... | DisGeNET | Detail |
| Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever... | DisGeNET | Detail |
| MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs104895094 dbSNP
- Genome
- hg38
- Position
- chr16:3,243,403-3,243,403
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser