chr10:43119646:C>T Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,615,094-43,615,094 View the variant detail on this assembly version. |
| hg38 | chr10:43,119,646-43,119,646 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.2508C>T | NP_065681.1:p.Ser836= |
| NM_020975.4:c.2508C>T | NP_066124.1:p.Ser836= | |
| Ensemble | ENST00000713926.1:c.2244C>T | ENST00000713926.1:p.Ser748= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
Likely benign
|
2017-04-27 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia |
germline
unknown
|
Detail |
|
Likely benign
|
2017-04-27 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
|
Likely benign
|
2017-04-27 | criteria provided, single submitter | pheochromocytoma |
germline
|
Detail |
|
Likely benign
|
2017-04-27 | criteria provided, single submitter | Renal hypodysplasia/aplasia 1 |
germline
|
Detail |
|
Benign
|
2020-12-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2019-05-07 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
germline
|
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.2508C>T (p.Ser836=) AND not specified | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Multiple endocrine neoplasia | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Pheochromocytoma | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Renal hypodysplasia/aplasia 1 | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.2508C>T (p.Ser836=) AND Multiple endocrine neoplasia type 2B | 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
- rs1800862 dbSNP
- Genome
- hg38
- Position
- chr10:43,119,646-43,119,646
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 69.74
- Standard deviation of sample read depth (HGVD)
- 35.47
- Number of reference allele (HGVD)
- 2409
- Number of alternative allele (HGVD)
- 5
- Allele Frequency (HGVD)
- 0.002071251035625518
- Gene Symbol (HGVD)
- RET
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1800862
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0007
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8546
- East Asian Allele Counts (ExAC)
- 13
- East Asian Heterozygous Counts (ExAC)
- 13
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0015211794991809033
- Chromosome Counts in All Race (ExAC)
- 118460
- Allele Counts in All Race (ExAC)
- 5527
- Heterozygous Counts in All Race (ExAC)
- 5151
- Homozygous Counts in All Race (ExAC)
- 188
- Allele Frequency in All Race (ExAC)
- 0.04665709944284991
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