GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 Detail (hg19) (ERCC8, PDE4D, PLK2, PART1, DEPDC1B, ZSWIM6, GPBP1, ELOVL7, NDUFAF2, RAB3C, MIER3, GAPT, LINC03122, ACTBL2, SMIM15, MIR582, MIR548AE2, LNCBRM, LOC101928505, LINC02225, LINC02101, LINC02108, SMIM15-AS1, LOC101928651, RMEL3, ERCC8-AS1, LINC02057, LOC105378997, LOC112997595, LOC112997596, LOC113002585, LOC114004394, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC129389285, LOC129389286, LOC129389287, LOC129389288, LOC129389289, LOC129389290, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:56,243,677-61,021,228 |
| hg38 | chr5:56,947,850-61,725,401 View the variant detail on this assembly version. |
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
|
2010-05-30 | no assertion criteria provided |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 AND See cases | 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
- chr5:56,243,677-61,021,228
- Variant Type
- cnv
Genome browser