chr17:17222525:G>A Detail (hg38) (FLCN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:17,125,839-17,125,839 View the variant detail on this assembly version. |
| hg38 | chr17:17,222,525-17,222,525 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_144997.5:c.755C>T | NP_659434.2:p.Ala252Val |
| NM_144606.5:c.755C>T | NP_653207.1:p.Ala252Val | |
| Ensemble | ENST00000285071.9:c.755C>T | ENST00000285071.9:p.Ala252Val |
Summary
MGeND
| Clinical significance |
Uncertain 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
2020/07/24 | malignant neoplasm of thyroid gland |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-10-08 | criteria provided, single submitter | Birt-Hogg-Dube syndrome |
germline
|
Detail |
|
Uncertain significance
|
2016-10-20 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_144997.7(FLCN):c.755C>T (p.Ala252Val) AND Birt-Hogg-Dube syndrome | ClinVar | Detail |
| NM_144997.7(FLCN):c.755C>T (p.Ala252Val) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs2047123533 dbSNP
- Genome
- hg38
- Position
- chr17:17,222,525-17,222,525
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser