chr10:43607621:G>T Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,607,621-43,607,621 |
hg38 | chr10:43,112,173-43,112,173 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.1597G>T | NP_066124.1:p.Gly533Cys |
NM_020630.4:c.1597G>T | NP_065681.1:p.Gly533Cys | |
Ensemble | ENST00000615310.5:c.1201G>T | ENST00000615310.5:p.Gly401Cys |
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 |
---|---|---|---|---|---|
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1999-02-01 | no assertion criteria provided | familial medullary thyroid carcinoma |
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Detail |
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2023-05-05 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-11-09 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
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Detail |
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2023-07-14 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-01-12 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.522 | familial medullary thyroid carcinoma | NA | CLINVAR | Detail | |
0.320 | Medullary carcinoma of thyroid | A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thy... | BeFree | 23745650 | Detail |
0.320 | Medullary carcinoma of thyroid | We previously described a six-generation family with G533C RET mutation and medu... | BeFree | 19138318 | Detail |
0.605 | pheochromocytoma | We describe the RET G533C mutation in exon 8 of the RET in two unrelated female ... | BeFree | 18805915 | Detail |
<0.001 | Secondary malignant neoplasm of liver | Moreover, RET p.G533C-expressing cells were able to induce liver metastasis in n... | BeFree | 21834681 | Detail |
0.614 | multiple endocrine neoplasia type 2A | The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia ... | BeFree | 21834681 | Detail |
0.005 | Secondary malignant neoplasm of lymph node | Genome-wide copy number analysis in a family with p.G533C RET mutation and medul... | BeFree | 24601688 | Detail |
0.522 | familial medullary thyroid carcinoma | Multiple endocrine neoplasia type 2A in two families with the familial medullary... | BeFree | 18805915 | Detail |
0.522 | familial medullary thyroid carcinoma | A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred ... | BeFree | 14602786 | Detail |
0.614 | multiple endocrine neoplasia type 2A | Our group described a p.G533C RET gene mutation in a large family with multiple ... | BeFree | 24601688 | Detail |
0.614 | multiple endocrine neoplasia type 2A | Multiple endocrine neoplasia type 2A in two families with the familial medullary... | BeFree | 18805915 | Detail |
0.614 | multiple endocrine neoplasia type 2A | We report for the first time a family from the United States with a rare mutatio... | BeFree | 23461807 | Detail |
0.320 | Medullary carcinoma of thyroid | We have previously described a p.G533C substitution in the rearranged during tra... | BeFree | 21834681 | Detail |
0.320 | Medullary carcinoma of thyroid | Genome-wide copy number analysis in a family with p.G533C RET mutation and medul... | BeFree | 24601688 | Detail |
0.320 | Medullary carcinoma of thyroid | We describe the RET G533C mutation in exon 8 of the RET in two unrelated female ... | BeFree | 18805915 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND Familial medullary thyroid carcinoma | ClinVar | Detail |
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NA | DisGeNET | Detail |
A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma empha... | DisGeNET | Detail |
We previously described a six-generation family with G533C RET mutation and medullary thyroid carcin... | DisGeNET | Detail |
We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with... | DisGeNET | Detail |
Moreover, RET p.G533C-expressing cells were able to induce liver metastasis in nude mice. | DisGeNET | Detail |
The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazili... | DisGeNET | Detail |
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcino... | DisGeNET | Detail |
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma a... | DisGeNET | Detail |
A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medull... | DisGeNET | Detail |
Our group described a p.G533C RET gene mutation in a large family with multiple endocrine neoplasia ... | DisGeNET | Detail |
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma a... | DisGeNET | Detail |
We report for the first time a family from the United States with a rare mutation involving exon 8 o... | DisGeNET | Detail |
We have previously described a p.G533C substitution in the rearranged during transfection (RET) onco... | DisGeNET | Detail |
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcino... | DisGeNET | Detail |
We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with... | 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
- rs75873440 dbSNP
- Genome
- hg19
- Position
- chr10:43,607,621-43,607,621
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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