chr19:19618620:G>C Detail (hg38) (PBX4, LOC130064083)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:19,729,429-19,729,429 View the variant detail on this assembly version. |
| hg38 | chr19:19,618,620-19,618,620 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_025245.2:c.10C>G | NP_079521.1:p.Pro4Ala |
| NR_038198.1:c.10C>G | ||
| Ensemble | ENST00000251203.14:c.10C>G | ENST00000251203.14:p.Pro4Ala |
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
|
2024-02-28 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_025245.3(PBX4):c.10C>G (p.Pro4Ala) AND not specified | 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
- hg38
- Position
- chr19:19,618,620-19,618,620
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser