chr3:122284482:C>A Detail (hg38) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:122,003,329-122,003,329 View the variant detail on this assembly version. |
hg38 | chr3:122,284,482-122,284,482 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.2558C>A | NP_001171536.1:p.Ala853Glu |
NM_000388.3:c.2528C>A | NP_000379.2:p.Ala843Glu | |
Ensemble | ENST00000490131.7:c.2297C>A | ENST00000490131.7:p.Ala766Glu |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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hypocalcemia |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
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.2528C>A (p.Ala843Glu) AND Bartter syndrome with hypocalcemia | ClinVar | Detail |
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) 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
- rs104893706 dbSNP
- Genome
- hg38
- Position
- chr3:122,284,482-122,284,482
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser