chr10:43597858:G>A Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,597,858-43,597,858 |
hg38 | chr10:43,102,410-43,102,410 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.406G>A | NP_065681.1:p.Glu136Lys |
NM_020975.4:c.406G>A | NP_066124.1:p.Glu136Lys | |
Ensemble | ENST00000340058.6:c.406G>A | ENST00000340058.6:p.Glu136Lys |
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 | Conflicting classifications of pathogenicity |
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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2024-01-05 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
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Detail |
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2023-07-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-01-04 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
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Detail |
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2011-03-18 | no assertion criteria provided | not specified |
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Detail |
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2023-03-30 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-11-27 | criteria provided, single submitter | familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2021-11-27 | criteria provided, single submitter | familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2021-11-27 | criteria provided, single submitter | familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2021-11-27 | criteria provided, single submitter | familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2021-11-27 | criteria provided, single submitter | familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2022-01-01 | criteria provided, single submitter | ovarian cancer |
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Detail |
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2023-06-30 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.156 | Hirschsprung disease 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND not specified | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Ovarian cancer | ClinVar | Detail |
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | 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
- rs79014735 dbSNP
- Genome
- hg19
- Position
- chr10:43,597,858-43,597,858
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.4666050381326557E-4
- Chromosome Counts in All Race (ExAC)
- 121398
- Allele Counts in All Race (ExAC)
- 10
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.23736799617786E-5
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