chr10:43613840:G>A Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,613,840-43,613,840 |
hg38 | chr10:43,118,392-43,118,392 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.2304G>A | NP_066124.1:p.Glu768= |
NM_020630.4:c.2304G>A | NP_065681.1:p.Glu768= | |
Ensemble | ENST00000615310.5:c.1908G>A | ENST00000615310.5:p.Glu636= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-02-23 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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 | |
0.031 | Malignant neoplasm of thyroid | The RET E768D mutation is associated with MTC with a later age at presentation, ... | BeFree | 16736292 | Detail |
0.522 | familial medullary thyroid carcinoma | RET mutations in exons 13 and 14 of FMTC patients. | UNIPROT | 7784092 | Detail |
0.522 | familial medullary thyroid carcinoma | The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma... | BeFree | 16736292 | Detail |
0.320 | Medullary carcinoma of thyroid | RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members... | BeFree | 16736292 | Detail |
0.109 | Thyroid carcinoma | The RET E768D mutation is associated with MTC with a later age at presentation, ... | BeFree | 16736292 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.2304G>A (p.Glu768=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetranc... | DisGeNET | Detail |
RET mutations in exons 13 and 14 of FMTC patients. | DisGeNET | Detail |
The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype w... | DisGeNET | Detail |
RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members, 3 affected with me... | DisGeNET | Detail |
The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetranc... | 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
- -
- Genome
- hg19
- Position
- chr10:43,613,840-43,613,840
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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