chr10:43601894:G>A Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,601,894-43,601,894 |
| hg38 | chr10:43,106,446-43,106,446 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020975.4:c.938G>A | NP_066124.1:p.Arg313Gln |
| NM_020630.4:c.938G>A | NP_065681.1:p.Arg313Gln | |
| Ensemble | ENST00000355710.8:c.938G>A | ENST00000355710.8:p.Arg313Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
1997-01-01 | no assertion criteria provided | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
|
Uncertain significance
|
2023-12-29 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2024-01-18 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Uncertain significance
|
2023-04-18 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
unknown
|
Detail |
|
Uncertain significance
|
2021-12-15 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2021-12-15 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2021-12-15 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2021-12-15 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2021-12-15 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-10-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.200 | Hirschsprung disease, susceptibility to, 1 | RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patie... | UNIPROT | 22174939 | Detail |
| 0.156 | Hirschsprung disease 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND not provided | ClinVar | Detail |
| RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. | 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
- rs77702891 dbSNP
- Genome
- hg19
- Position
- chr10:43,601,894-43,601,894
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 865
- Mean of sample read depth (HGVD)
- 13.61
- Standard deviation of sample read depth (HGVD)
- 7.70
- Number of reference allele (HGVD)
- 1728
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 5.78368999421631E-4
- Gene Symbol (HGVD)
- RET
- East Asian Chromosome Counts (ExAC)
- 8412
- 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)
- 115240
- Allele Counts in All Race (ExAC)
- 12
- Heterozygous Counts in All Race (ExAC)
- 12
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.0413051023950017E-4
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