chr10:43597961:C>T Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,597,961-43,597,961 |
hg38 | chr10:43,102,513-43,102,513 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.509C>T | NP_065681.1:p.Thr170Ile |
NM_020975.4:c.509C>T | NP_066124.1:p.Thr170Ile | |
Ensemble | ENST00000638465.2:c.*108C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2012-07-13 | no assertion criteria provided | not provided |
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Detail |
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2016-07-28 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
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Detail |
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2016-07-28 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
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Detail |
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2023-12-08 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
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Detail |
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2024-02-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | Thyroid Nodule | Elevated thyroid nodule risks were associated with the minor alleles of RET S836... | BeFree | 19138047 | Detail |
0.004 | Thyroid Nodule | Elevated thyroid nodule risks were associated with the minor alleles of RET S836... | BeFree | 19138047 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... | DisGeNET | Detail |
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... | 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
- rs200547906 dbSNP
- Genome
- hg19
- Position
- chr10:43,597,961-43,597,961
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121348
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.240762105679534E-6
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