chr3:122284598:A>T Detail (hg38) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:122,003,445-122,003,445 View the variant detail on this assembly version. |
hg38 | chr3:122,284,598-122,284,598 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.2674A>T | NP_001171536.1:p.Lys892Ter |
NM_000388.3:c.2644A>T | NP_000379.2:p.Lys882Ter | |
Ensemble | ENST00000490131.7:c.2413A>T | ENST00000490131.7:p.Lys805Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-08-18 | criteria provided, single submitter | familial hypocalciuric hypercalcemia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.588 | Hypocalciuric hypercalcemia, familial, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) AND Familial hypocalciuric hypercalcemia | 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
- rs193922437 dbSNP
- Genome
- hg38
- Position
- chr3:122,284,598-122,284,598
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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