chr3:122257275:A>C Detail (hg38) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:121,976,122-121,976,122 View the variant detail on this assembly version. |
hg38 | chr3:122,257,275-122,257,275 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.380A>C | NP_001171536.1:p.Glu127Ala |
NM_000388.3:c.380A>C | NP_000379.2:p.Glu127Ala | |
Ensemble | ENST00000490131.7:c.380A>C | ENST00000490131.7:p.Glu127Ala |
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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1994-11-01 | no assertion criteria provided | autosomal dominant hypocalcemia 1 |
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Detail |
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2017-04-18 | criteria provided, single submitter | not provided |
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Detail |
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2023-10-20 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
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Detail |
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2023-10-20 | criteria provided, single submitter | familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 |
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Detail |
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2022-04-27 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism |
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Detail |
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2022-04-27 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism |
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Detail |
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2022-04-27 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism |
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Detail |
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2022-04-27 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism |
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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 | |
0.131 | Hypoparathyroidism - autosomal dominant | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND Autosomal dominant hypocalcemia 1 | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND not provided | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) AND multiple conditions | ClinVar | Detail |
NA | 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
- rs121909260 dbSNP
- Genome
- hg38
- Position
- chr3:122,257,275-122,257,275
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser