chr3:122254304:C>T Detail (hg38) (CASR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:121,973,151-121,973,151 View the variant detail on this assembly version. |
| hg38 | chr3:122,254,304-122,254,304 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178065.1:c.115C>T | NP_001171536.1:p.Pro39Ser |
| NM_000388.3:c.115C>T | NP_000379.2:p.Pro39Ser | |
| Ensemble | ENST00000490131.7:c.115C>T | ENST00000490131.7:p.Pro39Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2020-09-17 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
germline
|
Detail |
|
Uncertain significance
|
2020-09-17 | 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 | A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a ho... | BeFree | 11095989 | Detail |
| 0.588 | Hypocalciuric hypercalcemia, familial, type 1 | Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C... | BeFree | 24517148 | Detail |
| 0.241 | Familial benign hypercalcemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000388.4(CASR):c.115C>T (p.Pro39Ser) AND multiple conditions | ClinVar | Detail |
| NM_000388.4(CASR):c.115C>T (p.Pro39Ser) AND multiple conditions | ClinVar | Detail |
| A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a homozygous missense mu... | DisGeNET | Detail |
| Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe... | DisGeNET | 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
- rs121909262 dbSNP
- Genome
- hg38
- Position
- chr3:122,254,304-122,254,304
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser