| General information of RDP00080 | |
|---|---|
| Gene Symbol: | CBL |
| RefSeq ID: | NM_005188 |
| Repeat coordinate: | chr11:119206289-119206322 (+) |
| Repeat size: | 11 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.610; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3) | 165360 | 11q23.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Fetal hydrops (in some patients) | NM_005188 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
119206289
302764
CCGGCGGCGG
C
.
11
119206290
302765
C
CGGT
.
11
119206293
302767
C
T
.
11
119206293
302766
CGGCGGCGGC
T
.
11
119206294
302768
G
T
.
11
119206296
302769
C
T
.
11
119206305
302770
C
T
.
11
119206312
302771
G
A
.
11
119206322
302772
G
A
.
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
119206289
rs758396206
CCGGCGGCGG
CCGGCGGCGGCGG,C,CCGGTGGCGGCGGCGGCGG,CCGGCGG,CCGGCGGCGGCGGCGG,CCGGCGGCGGCGGCGGCGG
3734930.92
11
119206290
.
C
CGGT
1439056.11
11
119206291
.
G
T
940295.58
11
119206292
.
G
C
939427.63
11
119206293
rs7108857
C
T
3437475.03
11
119206294
.
G
T
612627.97
11
119206296
.
C
T
608001.44
11
119206297
.
G
GGCGGCA
597382.07
11
119206299
.
C
T
63567.03
11
119206301
.
G
GCGGCGGCGGCGGCGA
63214.20
11
119206302
rs550548107
C
T
113077.59
11
119206304
.
G
GCGGCGGCGGCGGCGGCGGCGGCGGCGT
24988.02
11
119206305
.
C
T
24038.03
11
119206308
.
C
A
8556.01
11
119206311
.
C
T
8889.51
11
119206312
rs569014495
G
A,GGCGGCGGCGGCC
54803.64
11
119206314
.
C
A
302.53
11
119206316
.
G
GCGGCGGC
700.49
11
119206318
.
G
GGCGGCC,A
15163.10
11
119206321
rs529825474
G
GGCGGCGGCC
730.65
11
119206322
rs548262208
G
A,GCGA
91817.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
11
119206289
rs57028199
CCGG
C
.
11
119206289
.
CCGGCGG
CCGGTGG,C
.
11
119206289
.
CCGGCGGCGG
CCGGCGGCGGCGGCGG,C
.
11
119206289
.
CCGGCGGCGGCGG
CCGGTGGCGGCGG,C
.
11
119206289
.
CCGGCGGCGGCGGCGGCGG
C
.
11
119206290
.
CGGCGGC
CGGTGGC
.
11
119206290
.
C
CGGT
.
11
119206291
.
GGC
GGT
.
11
119206293
rs7108857
C
T
.
11
119206293
.
CGGC
T,TGGC
.
11
119206293
.
CGGCGGC
TGGCGGC
.
11
119206300
.
G
A
.
11
119206302
rs550548107
C
T
.
11
119206304
.
G
GC
.
11
119206312
rs569014495
G
A
.
11
119206317
.
CG
AC
.
11
119206321
rs529825474
G
C
.
11
119206322
rs548262208
G
A
.