chr9:136289505:C>G Detail (hg19) (ADAMTS13)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:136,289,505-136,289,505 |
hg38 | chr9:133,424,385-133,424,385 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_139026.4:c.237C>G | NP_620595.1:p.Ile79Met |
NM_139025.4:c.237C>G | NP_620594.1:p.Ile79Met | |
NM_139027.4:c.237C>G | NP_620596.2:p.Ile79Met |
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 |
---|---|---|---|---|---|
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no assertion provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.453 | Congenital Thrombotic Thrombocytopenic Purpura | Ten candidate ADAMTS13 mutations in six French families with congenital thrombot... | UNIPROT | 15009458 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met) AND not provided | ClinVar | Detail |
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic ... | 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
- rs281875297 dbSNP
- Genome
- hg19
- Position
- chr9:136,289,505-136,289,505
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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