chr6:29673387:C>A Detail (hg38) (ZFP57)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:29,641,164-29,641,164 View the variant detail on this assembly version. |
| hg38 | chr6:29,673,387-29,673,387 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001109809.2:c.508G>T | NP_001103279.2:p.Asp170Tyr |
| Ensemble | ENST00000376883.2:c.724G>T | ENST00000376883.2:p.Asp242Tyr |
| ENST00000488757.6:c.508G>T | ENST00000488757.6:p.Asp170Tyr |
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
|
2017-11-28 | no assertion criteria provided | Diabetes mellitus, transient neonatal, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr) AND Diabetes mellitus, transient neonatal, 1 | 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
- rs1554211826 dbSNP
- Genome
- hg38
- Position
- chr6:29,673,387-29,673,387
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser