chr3:122284337:C>T Detail (hg38) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:122,003,184-122,003,184 View the variant detail on this assembly version. |
| hg38 | chr3:122,284,337-122,284,337 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.2413C>T | NP_001171536.1:p.Arg805Trp |
| NM_000388.3:c.2383C>T | NP_000379.2:p.Arg795Trp | |
| Ensemble | ENST00000490131.7:c.2152C>T | ENST00000490131.7:p.Arg718Trp |
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
1994-11-01 | no assertion criteria provided | familial hypocalciuric hypercalcemia 1 |
germline
|
Detail |
|
Pathogenic
|
2015-03-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-12-15 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Likely pathogenic
|
2023-12-15 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Likely pathogenic
|
2016-01-01 | criteria provided, single submitter | autosomal dominant hypocalcemia 1 |
unknown
|
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.2383C>T (p.Arg795Trp) AND Familial hypocalciuric hypercalcemia 1 | ClinVar | Detail |
| NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) AND not provided | ClinVar | Detail |
| NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) AND Autosomal dominant hypocalcemia 1 | 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
- rs121909258 dbSNP
- Genome
- hg38
- Position
- chr3:122,284,337-122,284,337
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser