chr14:73712796:G>T Detail (hg19) (PAPLN, LOC130056046)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:73,712,796-73,712,796 |
| hg38 | chr14:73,246,088-73,246,088 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_173462.3:c.247G>T | NP_775733.3:p.Ala83Ser |
| Ensemble | ENST00000340738.9:c.247G>T | ENST00000340738.9:p.Ala83Ser |
| ENST00000555445.5:c.247G>T | ENST00000555445.5:p.Ala83Ser |
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
|
2022-11-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001365906.3(PAPLN):c.247G>T (p.Ala83Ser) 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
- hg19
- Position
- chr14:73,712,796-73,712,796
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser