chr21:43172656:G>C Detail (hg38) (CRYAA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:44,592,766-44,592,766 View the variant detail on this assembly version. |
| hg38 | chr21:43,172,656-43,172,656 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000394.3:c.*376G>C | |
| Ensemble | ENST00000291554.6:c.*376G>C |
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
|
2018-01-12 | criteria provided, single submitter | cataract 9 multiple types |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000394.4(CRYAA):c.*376G>C AND Cataract 9 multiple types | 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
- rs886057109 dbSNP
- Genome
- hg38
- Position
- chr21:43,172,656-43,172,656
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser