chr3:122285045:G>A Detail (hg38) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:122,003,892-122,003,892 View the variant detail on this assembly version. |
hg38 | chr3:122,285,045-122,285,045 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.3121G>A | NP_001171536.1:p.Gly1041Ser |
NM_000388.3:c.3091G>A | NP_000379.2:p.Gly1031Ser | |
Ensemble | ENST00000490131.7:c.2860G>A | ENST00000490131.7:p.Gly954Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2019-03-13 | criteria provided, conflicting interpretations | not specified |
![]() |
Detail |
![]() |
2019-03-30 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2019-05-28 | criteria provided, single submitter | familial hypocalciuric hypercalcemia 1 |
![]() |
Detail |
![]() |
2023-12-18 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
![]() |
Detail |
![]() |
2023-12-18 | criteria provided, single submitter | autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia |
![]() |
Detail |
![]() |
2023-03-02 | criteria provided, single submitter | Nephrolithiasis/nephrocalcinosis |
![]() |
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.3091G>A (p.Gly1031Ser) AND not specified | ClinVar | Detail |
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) AND not provided | ClinVar | Detail |
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) AND Familial hypocalciuric hypercalcemia 1 | ClinVar | Detail |
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) AND multiple conditions | ClinVar | Detail |
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) AND Nephrolithiasis/nephrocalcinosis | 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
- rs142704083 dbSNP
- Genome
- hg38
- Position
- chr3:122,285,045-122,285,045
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121160
- Allele Counts in All Race (ExAC)
- 27
- Heterozygous Counts in All Race (ExAC)
- 25
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 2.228458237041928E-4
Genome browser