chr1:146019594:A>C Detail (hg38) (HJV)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:145,415,418-145,415,418 |
| hg38 | chr1:146,019,594-146,019,594 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001316767.1:c.238T>G | NP_001303696.1:p.Cys80Gly |
| NM_213653.3:c.238T>G | NP_998818.1:p.Cys80Gly | |
| NM_145277.4:c.-102T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-01-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.320 | HEMOCHROMATOSIS, TYPE 2A | NA | CLINVAR | Detail | |
| 0.320 | HEMOCHROMATOSIS, TYPE 2A | Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene en... | UNIPROT | 14982867 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_213653.4(HJV):c.238T>G (p.Cys80Gly) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. | DisGeNET | 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
- rs28940586 dbSNP
- Genome
- hg38
- Position
- chr1:146,019,594-146,019,594
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser