chr9:136301985:C>T Detail (hg19) (ADAMTS13)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:136,301,985-136,301,985 |
hg38 | chr9:133,436,865-133,436,865 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_139026.4:c.1252C>T | NP_620595.1:p.Gln418Ter |
NM_139025.4:c.1345C>T | NP_620594.1:p.Gln449Ter | |
NM_139027.4:c.1345C>T | NP_620596.2:p.Gln449Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[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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2002-09-03 | no assertion criteria provided | Upshaw-Schulman syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.453 | Congenital Thrombotic Thrombocytopenic Purpura | NA | CLINVAR | Detail | |
0.453 | Congenital Thrombotic Thrombocytopenic Purpura | Analyses of the ADAMTS13 genes in USS-CC5 and USS-HH4 revealed compound heterozy... | BeFree | 23188471 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) AND Upshaw-Schulman syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
Analyses of the ADAMTS13 genes in USS-CC5 and USS-HH4 revealed compound heterozygotes of p.R398C/p.Q... | 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
- rs121908476 dbSNP
- Genome
- hg19
- Position
- chr9:136,301,985-136,301,985
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs121908476
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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