chr10:43609949:GC>TG Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,949-43,609,950 |
hg38 | chr10:43,114,501-43,114,502 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.1901_1902delinsTG | NP_066124.1:p.Cys634Leu |
NM_020630.4:c.1901_1902delinsTG | NP_065681.1:p.Cys634Leu | |
Ensemble | ENST00000615310.5:c.1505_1506delinsTG | ENST00000615310.5:p.Cys502Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail |
Annotation
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
- rs377767409 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,949-43,609,950
- Variant Type
- snv
- Reference Allele
- GC
- Alternative Allele
- TG
Genome browser