chr3:122257323:G>A Detail (hg38) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:121,976,170-121,976,170 View the variant detail on this assembly version. |
hg38 | chr3:122,257,323-122,257,323 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.428G>A | NP_001171536.1:p.Gly143Glu |
NM_000388.3:c.428G>A | NP_000379.2:p.Gly143Glu | |
Ensemble | ENST00000490131.7:c.428G>A | ENST00000490131.7:p.Gly143Glu |
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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1995-05-01 | no assertion criteria provided | familial hypocalciuric hypercalcemia 1 |
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Detail |
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2015-12-30 | criteria provided, single submitter | not provided |
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Detail |
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2023-12-05 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2023-12-05 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
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Detail |
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2022-06-02 | criteria provided, single submitter | familial hypocalciuric hypercalcemia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.241 | Familial benign hypercalcemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) AND Familial hypocalciuric hypercalcemia 1 | ClinVar | Detail |
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) AND not provided | ClinVar | Detail |
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) AND Familial hypocalciuric hypercalcemia | 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
- rs121909264 dbSNP
- Genome
- hg38
- Position
- chr3:122,257,323-122,257,323
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser