chr10:43609069:T>G Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,069-43,609,069 |
hg38 | chr10:43,113,621-43,113,621 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.1825T>G | NP_066124.1:p.Cys609Gly |
NM_020630.4:c.1825T>G | NP_065681.1:p.Cys609Gly | |
Ensemble | ENST00000355710.8:c.1825T>G | ENST00000355710.8:p.Cys609Gly |
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 | |
0.522 | familial medullary thyroid carcinoma | NA | CLINVAR | Detail | |
0.320 | Medullary carcinoma of thyroid | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
0.006 | Hyperparathyroidism, Primary | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
0.605 | pheochromocytoma | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
0.320 | Medullary carcinoma of thyroid | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
0.614 | multiple endocrine neoplasia type 2A | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
0.605 | pheochromocytoma | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
<0.001 | Hirschsprung disease 1 | Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... | BeFree | 23744765 | Detail |
0.006 | Hyperparathyroidism, Primary | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
<0.001 | Hirschsprung Disease | Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... | BeFree | 23744765 | Detail |
0.305 | multiple endocrine neoplasia | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
0.320 | Medullary carcinoma of thyroid | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
In this short review article, we comment on our previous report of a large multiple endocrine neopla... | DisGeNET | Detail |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... | DisGeNET | Detail |
In this short review article, we comment on our previous report of a large multiple endocrine neopla... | DisGeNET | Detail |
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... | DisGeNET | Detail |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
In this short review article, we comment on our previous report of a large multiple endocrine neopla... | 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
- rs77558292 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,069-43,609,069
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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