GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 Detail (hg19) (ANXA13, EXT1, HAS2, NDUFB9, CCN3, TNFRSF11B, ENPP2, SNTB1, SQLE, TAF2, COL14A1, MTSS1, WASHC5, TRIB1, COLEC10, RNF139, ZHX1, ZHX2, MTBP, MRPL13, ATAD2, TRMT12, NTAQ1, DEPTOR, DSCC1, DERL1, TATDN1, C8orf76, FAM83A, MED30, TBC1D31, MAL2, FBXO32, ZNF572, TMEM65, FAM91A1, SLC30A8, NSMCE2, KLHL38, SAMD12, HAS2-AS1, FER1L6, ZHX1-C8orf76)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:118,185,471-126,635,744 |
| hg38 | chr8:117,173,232-125,623,500 |
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
|
2022-01-05 | criteria provided, single submitter | Exostoses, multiple, type 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 AND Exostoses, multiple, type 1 | 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
- hg19
- Position
- chr8:118,185,471-126,635,744
- Variant Type
- cnv
Genome browser