chr3:122002844:G>T Detail (hg19) (CASR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:122,002,844-122,002,844 |
hg38 | chr3:122,283,997-122,283,997 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001178065.1:c.2073G>T | NP_001171536.1:p.Gln691His |
NM_000388.3:c.2043G>T | NP_000379.2:p.Gln681His | |
Ensemble | ENST00000490131.7:c.1812G>T | ENST00000490131.7:p.Gln604His |
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 |
---|---|---|---|---|---|
![]() |
1996-05-01 | no assertion criteria provided | autosomal dominant hypocalcemia 1 |
![]() |
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.2043G>T (p.Gln681His) AND Autosomal dominant hypocalcemia 1 | 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
- rs121909261 dbSNP
- Genome
- hg19
- Position
- chr3:122,002,844-122,002,844
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser