chr10:43597793:G>A Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,597,793-43,597,793 |
| hg38 | chr10:43,102,345-43,102,345 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.341G>A | NP_065681.1:p.Arg114His |
| NM_020975.4:c.341G>A | NP_066124.1:p.Arg114His | |
| Ensemble | ENST00000340058.6:c.341G>A | ENST00000340058.6:p.Arg114His |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.006 |
| ToMMo:0.005 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.011 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
2021/12/08 | paraganglioma |
germline
|
MGS000061
(TMGS000128) |
Tatsuo Matsunaga Tatsuo Matsunaga |
National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2002-04-01 | no assertion criteria provided | Congenital central hypoventilation |
germline
|
Detail |
|
Benign
|
2017-01-05 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2020-04-28 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-01-30 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Benign
|
2016-03-18 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
|
Benign
|
2018-11-21 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
unknown
|
Detail |
|
Likely benign
|
2017-04-28 | criteria provided, single submitter | Renal hypodysplasia/aplasia 1 |
germline
|
Detail |
|
Benign
|
2017-04-28 | criteria provided, single submitter | multiple endocrine neoplasia |
germline
|
Detail |
|
Benign
|
2017-04-28 | criteria provided, single submitter | pheochromocytoma |
germline
|
Detail |
|
Likely benign
|
2023-08-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.126 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.120 | CCHS WITH HIRSCHSPRUNG DISEASE | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Congenital central hypoventilation | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND not specified | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Renal hypodysplasia/aplasia 1 | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Multiple endocrine neoplasia | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND Pheochromocytoma | ClinVar | Detail |
| NM_020975.6(RET):c.341G>A (p.Arg114His) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs76397662 dbSNP
- Genome
- hg19
- Position
- chr10:43,597,793-43,597,793
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 269.77
- Standard deviation of sample read depth (HGVD)
- 141.52
- Number of reference allele (HGVD)
- 2406
- Number of alternative allele (HGVD)
- 14
- Allele Frequency (HGVD)
- 0.005785123966942148
- 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))
- rs76397662
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0046
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 77
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Homozygous Counts in All Race (ExAC)
- 1
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 98
- East Asian Heterozygous Counts (ExAC)
- 96
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.011326860841423949
- Chromosome Counts in All Race (ExAC)
- 121326
- Allele Counts in All Race (ExAC)
- 107
- Heterozygous Counts in All Race (ExAC)
- 105
- Allele Frequency in All Race (ExAC)
- 8.819214348119942E-4
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