chr3:121994675:G>A Detail (hg19) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:121,994,675-121,994,675 |
| hg38 | chr3:122,275,828-122,275,828 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.1394G>A | NP_001171536.1:p.Arg465Gln |
| NM_000388.3:c.1394G>A | NP_000379.2:p.Arg465Gln | |
| Ensemble | ENST00000490131.7:c.1378-6285G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2024-03-08 | no assertion criteria provided | familial hypocalciuric hypercalcemia 1 |
germline
maternal
|
Detail |
|
Pathogenic
|
2023-12-11 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
germline
|
Detail |
|
Pathogenic
|
2023-12-11 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
germline
|
Detail |
|
Pathogenic
|
2023-03-07 | criteria provided, single submitter | not provided |
unknown
|
Detail |
Uncertain significance
|
2020-10-06 | criteria provided, single submitter | Nephrolithiasis/nephrocalcinosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.241 | Familial benign hypercalcemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND Familial hypocalciuric hypercalcemia 1 | ClinVar | Detail |
| NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND not provided | ClinVar | Detail |
| NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) AND Nephrolithiasis/nephrocalcinosis | 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
- rs104893716 dbSNP
- Genome
- hg19
- Position
- chr3:121,994,675-121,994,675
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser