chr3:121980378:A>G Detail (hg19) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:121,980,378-121,980,378 |
hg38 | chr3:122,261,531-122,261,531 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.496A>G | NP_001171536.1:p.Ser166Gly |
NM_000388.3:c.496A>G | NP_000379.2:p.Ser166Gly | |
Ensemble | ENST00000490131.7:c.496A>G | ENST00000490131.7:p.Ser166Gly |
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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2019-02-05 | criteria provided, single submitter | not specified |
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Detail |
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2022-09-13 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2022-09-13 | 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 |
---|---|---|---|---|---|
0.588 | Hypocalciuric hypercalcemia, familial, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) AND not specified | ClinVar | Detail |
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) 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
- rs193922441 dbSNP
- Genome
- hg19
- Position
- chr3:121,980,378-121,980,378
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser