chr3:121980436:G> Detail (hg19) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:121,980,436-121,980,436 |
| hg38 | chr3:122,261,589-122,261,589 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.554delG | NP_001171536.1:p.Arg185GlnfsTer72 |
| NM_000388.3:c.554delG | NP_000379.2:p.Arg185GlnfsTer72 | |
| Ensemble | ENST00000490131.7:c.554delG | ENST00000490131.7:p.Arg185GlnfsTer72 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
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 |
|
Pathogenic
|
2022-08-09 | criteria provided, single submitter | not provided |
unknown
|
Detail |
|
Pathogenic
|
2022-11-09 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Pathogenic
|
2022-11-09 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
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.554del (p.Arg185fs) AND Familial hypocalciuric hypercalcemia | ClinVar | Detail |
| NM_000388.4(CASR):c.554del (p.Arg185fs) AND not provided | ClinVar | Detail |
| NM_000388.4(CASR):c.554del (p.Arg185fs) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.554del (p.Arg185fs) AND multiple conditions | 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
- rs193922442 dbSNP
- Genome
- hg19
- Position
- chr3:121,980,436-121,980,436
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser