chr10:43609103:G>T Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,103-43,609,103 |
hg38 | chr10:43,113,655-43,113,655 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.1859G>T | NP_065681.1:p.Cys620Phe |
NM_020975.4:c.1859G>T | NP_066124.1:p.Cys620Phe | |
Ensemble | ENST00000713926.1:c.1730G>T | ENST00000713926.1:p.Cys577Phe |
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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2016-05-08 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
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Detail |
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2024-01-25 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
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Detail |
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2016-05-08 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-11-05 | criteria provided, single submitter | not specified |
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Detail |
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2022-11-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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 | |
0.614 | multiple endocrine neoplasia type 2A | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | BeFree | 22199277 | Detail |
0.592 | multiple endocrine neoplasia type 2B | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | BeFree | 22199277 | Detail |
0.614 | multiple endocrine neoplasia type 2A | Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diag... | UNIPROT | 7915165 | Detail |
0.522 | familial medullary thyroid carcinoma | Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diag... | UNIPROT | 7915165 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND not specified | ClinVar | Detail |
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | DisGeNET | Detail |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | DisGeNET | Detail |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. | DisGeNET | Detail |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs77503355 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,103-43,609,103
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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