chr3:122275946:GTTT> Detail (hg38) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:121,994,793-121,994,796 |
| hg38 | chr3:122,275,946-122,275,949 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.1512_1515delGTTT | NP_001171536.1:p.Phe505ArgfsTer131 |
| NM_000388.3:c.1512_1515delGTTT | NP_000379.2:p.Phe505ArgfsTer121 | |
| Ensemble | ENST00000490131.7:c.1378-6167_1378-6164delGTTT |
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
|
2011-08-18 | criteria provided, single submitter | familial hypocalciuric hypercalcemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.588 | Hypocalciuric hypercalcemia, familial, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000388.4(CASR):c.1512_1515del (p.Phe505fs) AND Familial hypocalciuric hypercalcemia | ClinVar | Detail |
| NA | 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
- rs193922422 dbSNP
- Genome
- hg38
- Position
- chr3:122,275,946-122,275,949
- Variant Type
- snv
- Reference Allele
- GTTT
- Alternative Allele
- -
Genome browser