chr10:43595928:C>T Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,595,928-43,595,928 |
hg38 | chr10:43,100,480-43,100,480 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.95C>T | NP_065681.1:p.Ser32Leu |
NM_020975.4:c.95C>T | NP_066124.1:p.Ser32Leu | |
Ensemble | ENST00000638465.2:c.95C>T | ENST00000638465.2:p.Ser32Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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1994-01-27 | no assertion criteria provided | Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2014-07-29 | no assertion criteria provided | Aganglionic megacolon |
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Detail |
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2022-08-20 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.156 | Hirschsprung disease 1 | NA | CLINVAR | Detail | |
<0.001 | multiple endocrine neoplasia type 2B | With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which ... | BeFree | 17599050 | Detail |
<0.001 | multiple endocrine neoplasia type 2B | With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which ... | BeFree | 17599050 | Detail |
0.200 | Hirschsprung disease, susceptibility to, 1 | A human model for multigenic inheritance: phenotypic expression in Hirschsprung ... | UNIPROT | 10618407 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.95C>T (p.Ser32Leu) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
NM_020975.6(RET):c.95C>T (p.Ser32Leu) AND Aganglionic megacolon | ClinVar | Detail |
NM_020975.6(RET):c.95C>T (p.Ser32Leu) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which accumulate in the ER... | DisGeNET | Detail |
With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which accumulate in the ER... | DisGeNET | Detail |
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires bot... | 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
- rs76764689 dbSNP
- Genome
- hg19
- Position
- chr10:43,595,928-43,595,928
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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