chr3:121976116:T>C Detail (hg19) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:121,976,116-121,976,116 |
hg38 | chr3:122,257,269-122,257,269 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.374T>C | NP_001171536.1:p.Leu125Pro |
NM_000388.3:c.374T>C | NP_000379.2:p.Leu125Pro | |
Ensemble | ENST00000490131.7:c.374T>C | ENST00000490131.7:p.Leu125Pro |
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 | Conflicting classifications of pathogenicity |
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
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-02-28 | criteria provided, single submitter | autosomal dominant hypocalcemia 1 |
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Detail |
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2002-09-01 | no assertion criteria provided | Bartter syndrome with hypocalcemia |
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Detail |
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2021-05-11 | criteria provided, single submitter | not provided |
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Detail |
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2021-11-16 | criteria provided, single submitter | familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 |
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Detail |
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2021-11-16 | criteria provided, single submitter | familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 |
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Detail |
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2021-11-16 | criteria provided, single submitter | familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 |
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Detail |
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2021-11-16 | criteria provided, single submitter | familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 |
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Detail |
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2023-11-06 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2023-11-06 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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.374T>C (p.Leu125Pro) AND Autosomal dominant hypocalcemia 1 | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND Bartter syndrome with hypocalcemia | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND not provided | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions | 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
- rs104893708 dbSNP
- Genome
- hg19
- Position
- chr3:121,976,116-121,976,116
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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