NC_000001.11:g.173859535_173926473del AND Hereditary antithrombin deficiency Detail (hg38) (SERPINC1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, GAS5, ZBTB37, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, GAS5-AS1, SNORA103, LOC126805922, LOC126805923, LOC129931940, LOC129931941)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:173,828,673-173,895,611 |
| hg38 | chr1:173,859,535-173,926,473 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
no assertion criteria provided | Hereditary antithrombin deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000001.11:g.173859535_173926473del AND Hereditary antithrombin deficiency | ClinVar | 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
- -
- Genome
- hg38
- Position
- chr1:173,859,535-173,926,473
- Variant Type
- cnv
Genome browser