chr10:43114478:A>G Detail (hg38) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,926-43,609,926 View the variant detail on this assembly version. |
hg38 | chr10:43,114,478-43,114,478 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.1880-2A>G | |
NM_020975.4:c.1880-2A>G | ||
Ensemble | ENST00000340058.6:c.1880-2A>G |
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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2011-08-18 | 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.1880-2A>G AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs193922699 dbSNP
- Genome
- hg38
- Position
- chr10:43,114,478-43,114,478
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser