GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 Detail (hg38) (CSRP2, KCNC2, NAP1L1, CNOT2, PTPRB, PTPRR, TSPAN8, LGR5, GLIPR1, KRR1, PHLDA1, RAB21, ZDHHC17, KCNMB4, TRHDE, TMEM19, TBC1D15, BBS10, THAP2, CAPS2, OSBPL8, RAB3IP, TPH2, GLIPR1L2, ZFC3H1, MYRFL, GLIPR1L1, TRHDE-AS1, ATXN7L3B, LOC100130268, LINC02882, PRANCR, LINC02444, LINC02445, LINC02394, LNCOG, LOC105369850, LOC111365152, LOC112163631, LOC112163632, PHLDA1-DT, PHLDA1-AS1, GLIPR1-AS1, LOC124629403, LOC124629404, LOC124629407, LOC124629408, LOC124629409, LOC124629410, LOC124629411, LOC124629412, LOC124629413, LOC124629414, LOC124629415, LOC126861567, LOC126861568, LOC126861569, LOC126861570, LOC126861571, LOC126861572, LOC126861573, LOC126861574, LOC126861575, LOC126861576, LOC129390483, LOC129390484, LOC129390485, LOC129390486, LOC129390487, LOC129390488, LOC129390489, LOC129390490, LOC129390491, LOC129390492, LOC129390493, LOC129390494, LOC129390495, LOC129390496, LOC129390497, LOC129390498, LOC129390499, LOC129390500, LOC129390501, LOC129390502, LOC129390503, LOC129390504, LOC129390505, LOC129390506, LOC129390507, LOC129390508, LOC129390509, LOC129390510, LOC130008287, LOC130008288, LOC130008289, LOC130008290, LOC130008291, LOC130008292, LOC130008293, LOC130008294, LOC130008295, LOC130008296, LOC130008297, LOC130008298, LOC130008299, LOC130008300, LOC130008301, LOC130008302, LOC130008303, LOC130008304, LOC130008305, LOC130008306, LOC130008307, LOC130008308, LOC130008309, LOC130008310, LOC130008311, LOC130008312, LOC130008313, LOC130008314, LOC130008315, LOC130008316, LOC130008317, LOC130008318, LOC130008319, LOC132090140, LOC132090141)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:70,163,517-77,357,997 View the variant detail on this assembly version. |
| hg38 | chr12:69,769,737-76,964,217 |
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
|
2011-03-08 | no assertion criteria provided |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 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
- hg38
- Position
- chr12:69,769,737-76,964,217
- Variant Type
- cnv
Genome browser