chr1:11022737:T>C Detail (hg38) (MASP2, TARDBP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,082,794-11,082,794 View the variant detail on this assembly version. |
hg38 | chr1:11,022,737-11,022,737 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000700088.1:c.1397-544A>G |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007375.3:c.*83T>C | |
Ensemble | ENST00000240185.8:c.*83T>C | |
ENST00000315091.7:c.833-456T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
no assertion provided | amyotrophic lateral sclerosis type 10 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007375.4(TARDBP):c.*83T>C AND Amyotrophic lateral sclerosis type 10 | 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
- rs80356744 dbSNP
- Genome
- hg38
- Position
- chr1:11,022,737-11,022,737
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser