chr16:68810288:C>T Detail (hg38) (CDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:68,844,191-68,844,191 View the variant detail on this assembly version. |
| hg38 | chr16:68,810,288-68,810,288 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001317184.1:c.779C>T | NP_001304113.1:p.Pro260Leu |
| NM_001317186.1:c.779C>T | NP_001304115.1:p.Pro260Leu | |
| NM_004360.4:c.779C>T | NP_004351.1:p.Pro260Leu |
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
|
no assertion criteria provided | blepharocheilodontic syndrome 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) AND Blepharocheilodontic syndrome 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
- rs1960783816 dbSNP
- Genome
- hg38
- Position
- chr16:68,810,288-68,810,288
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser