chr10:43114491:G>T Detail (hg38) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,939-43,609,939 View the variant detail on this assembly version. |
hg38 | chr10:43,114,491-43,114,491 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.1891G>T | NP_065681.1:p.Asp631Tyr |
NM_020975.4:c.1891G>T | NP_066124.1:p.Asp631Tyr | |
Ensemble | ENST00000340058.6:c.1891G>T | ENST00000340058.6:p.Asp631Tyr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
0.605 | pheochromocytoma | Patients with RET D631Y mutations most commonly present with pheochromocytoma an... | BeFree | 22274720 | Detail |
<0.001 | multiple endocrine neoplasia type 2A | We report here on a rare extracellular mutation of the RET gene that led to the ... | BeFree | 16839264 | Detail |
0.320 | Medullary carcinoma of thyroid | Patients with RET D631Y mutations most commonly present with pheochromocytoma an... | BeFree | 22274720 | Detail |
0.614 | multiple endocrine neoplasia type 2A | We report here on a rare extracellular mutation of the RET gene that led to the ... | BeFree | 16839264 | Detail |
0.305 | multiple endocrine neoplasia | A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Ko... | BeFree | 16839264 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyr... | DisGeNET | Detail |
We report here on a rare extracellular mutation of the RET gene that led to the substitution of a ty... | DisGeNET | Detail |
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyr... | DisGeNET | Detail |
We report here on a rare extracellular mutation of the RET gene that led to the substitution of a ty... | DisGeNET | Detail |
A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with m... | 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
- rs377767406 dbSNP
- Genome
- hg38
- Position
- chr10:43,114,491-43,114,491
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser