chr3:122284317:T>G Detail (hg38) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:122,003,164-122,003,164 View the variant detail on this assembly version. |
| hg38 | chr3:122,284,317-122,284,317 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.2393T>G | NP_001171536.1:p.Phe798Cys |
| NM_000388.3:c.2363T>G | NP_000379.2:p.Phe788Cys | |
| Ensemble | ENST00000490131.7:c.2132T>G | ENST00000490131.7:p.Phe711Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
hypocalcemia |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2018-07-18 | no assertion criteria provided | autosomal dominant hypocalcemia 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-07-01 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Pathogenic
|
2022-07-01 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Pathogenic
|
2024-03-04 | criteria provided, single submitter | Nephrolithiasis/nephrocalcinosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.131 | Hypoparathyroidism - autosomal dominant | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) AND Autosomal dominant hypocalcemia 1 | ClinVar | Detail |
| NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) 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
- rs104893701 dbSNP
- Genome
- hg38
- Position
- chr3:122,284,317-122,284,317
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser