chr9:21994303:C>T Detail (hg38) (CDKN2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:21,994,302-21,994,302 View the variant detail on this assembly version. |
| hg38 | chr9:21,994,303-21,994,303 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_058195.3:c.29G>A | NP_478102.2:p.Arg10Gln |
| Ensemble | ENST00000494262.5:c.-175-250G>A | |
| ENST00000498628.6:c.-4+518G>A |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
2019/12/16 | breast, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2021-03-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_058195.4(CDKN2A):c.29G>A (p.Arg10Gln) 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
- -
- dbSNP
- rs2131148973 dbSNP
- Genome
- hg38
- Position
- chr9:21,994,303-21,994,303
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser