chr10:43114596:A>G Detail (hg38) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,610,044-43,610,044 View the variant detail on this assembly version. |
hg38 | chr10:43,114,596-43,114,596 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.1996A>G | NP_065681.1:p.Lys666Glu |
NM_020975.4:c.1996A>G | NP_066124.1:p.Lys666Glu | |
Ensemble | ENST00000340058.6:c.1996A>G | ENST00000340058.6:p.Lys666Glu |
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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2024-01-21 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
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Detail |
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2014-06-01 | no assertion criteria provided | Medullary thyroid carcinoma |
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Detail |
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2023-08-28 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-03-03 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-04-28 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2022-02-16 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma |
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Detail |
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2022-02-16 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma |
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Detail |
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2022-02-16 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma |
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Detail |
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2022-02-16 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma |
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Detail |
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2022-02-16 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma |
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Detail |
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2024-01-05 | 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 |
---|---|---|---|---|---|
0.320 | Medullary carcinoma of thyroid | NA | CLINVAR | Detail | |
0.320 | Medullary carcinoma of thyroid | It was not possible to define whether K666E is a de novo or inherited RET varian... | BeFree | 21690267 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Medullary thyroid carcinoma | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NA | DisGeNET | Detail |
It was not possible to define whether K666E is a de novo or inherited RET variant in the patient, as... | 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
- rs143795581 dbSNP
- Genome
- hg38
- Position
- chr10:43,114,596-43,114,596
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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