chr11:5226576:C>G Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:5,247,806-5,247,806 View the variant detail on this assembly version. |
hg38 | chr11:5,226,576-5,226,576 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000518.4:c.315+1G>C | |
Ensemble | ENST00000335295.4:c.315+1G>C | |
ENST00000485743.1:c.316G>C | ENST00000485743.1:p.Val106Leu |
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
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.287 | alpha-Thalassemia | NA | CLINVAR | Detail | |
0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail | |
0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000518.5(HBB):c.315+1G>C AND beta Thalassemia | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>C AND not provided | ClinVar | Detail |
NA | DisGeNET | 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
- rs33945777 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,576-5,226,576
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser