chr19:6690651:C>T Detail (hg19) (C3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:6,690,651-6,690,651 |
| hg38 | chr19:6,690,640-6,690,640 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000064.3:c.3478G>A | NP_000055.2:p.Glu1160Lys |
| Ensemble | ENST00000245907.11:c.3478G>A | ENST00000245907.11:p.Glu1160Lys |
| ENST00000695653.1:c.1387G>A | ENST00000695653.1:p.Glu463Lys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-12-17 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000064.4(C3):c.3478G>A (p.Glu1160Lys) AND not provided | 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
- -
- Genome
- hg19
- Position
- chr19:6,690,651-6,690,651
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser