chr3:122002611:G>A Detail (hg19) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:122,002,611-122,002,611 |
hg38 | chr3:122,283,764-122,283,764 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.1840G>A | NP_001171536.1:p.Glu614Lys |
NM_000388.3:c.1810G>A | NP_000379.2:p.Glu604Lys | |
Ensemble | ENST00000490131.7:c.1579G>A | ENST00000490131.7:p.Glu527Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-07-02 | no assertion criteria provided | autosomal dominant hypocalcemia 1 |
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Detail |
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2021-07-22 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-12-01 | criteria provided, single submitter | autosomal dominant hypocalcemia |
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Detail |
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2022-09-12 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2022-09-12 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2023-09-11 | criteria provided, single submitter | Nephrolithiasis/nephrocalcinosis |
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Detail |
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2023-12-19 | criteria provided, single submitter | CASR-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.131 | Hypoparathyroidism - autosomal dominant | NA | CLINVAR | Detail | |
0.131 | Hypoparathyroidism - autosomal dominant | Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cyst... | BeFree | 12574188 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Autosomal dominant hypocalcemia 1 | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND not provided | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Autosomal dominant hypocalcemia | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Nephrolithiasis/nephrocalcinosis | ClinVar | Detail |
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND CASR-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs104893712 dbSNP
- Genome
- hg19
- Position
- chr3:122,002,611-122,002,611
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser