chr3:122283982:G>A Detail (hg38) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:122,002,829-122,002,829 View the variant detail on this assembly version. |
| hg38 | chr3:122,283,982-122,283,982 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.2058G>A | NP_001171536.1:p.Thr686= |
| NM_000388.3:c.2028G>A | NP_000379.2:p.Thr676= | |
| Ensemble | ENST00000490131.7:c.1797G>A | ENST00000490131.7:p.Thr599= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2023-12-10 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
germline
|
Detail |
|
Likely benign
|
2023-12-10 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
germline
|
Detail |
|
Likely benign
|
2019-08-22 | criteria provided, single submitter | Nephrolithiasis/nephrocalcinosis |
germline
|
Detail |
|
Likely benign
|
2021-01-21 | criteria provided, single submitter | CASR-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND Nephrolithiasis/nephrocalcinosis | ClinVar | Detail |
| NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND CASR-related disorder | 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
- rs563112343 dbSNP
- Genome
- hg38
- Position
- chr3:122,283,982-122,283,982
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3110700254217703E-4
- Chromosome Counts in All Race (ExAC)
- 121214
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.299948850792813E-5
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