chr10:43609944:G>C Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,944-43,609,944 |
hg38 | chr10:43,114,496-43,114,496 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.1896G>C | NP_066124.1:p.Glu632Asp |
NM_020630.4:c.1896G>C | NP_065681.1:p.Glu632Asp | |
Ensemble | ENST00000615310.5:c.1500G>C | ENST00000615310.5:p.Glu500Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | no classification for the single variant |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
1994-01-01 | no assertion criteria provided | multiple endocrine neoplasia type 2A |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C] AND Multiple endocrine neoplasia type 2A | 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
- rs267607010 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,944-43,609,944
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser