| General information of RDP00235 | |
|---|---|
| Gene Symbol: | VLDLR |
| RefSeq ID: | NM_001018056 |
| Repeat coordinate: | chr9:2622146-2622170 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.997; 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 |
| Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) | 192977 | 9p24.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 | NM_001018056 | 0.68 | 3 | 6 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622146
.
ACGGCGGCGG
A
100
9
2622167
.
G
GCGGCGGCAC
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622146
366355
ACGG
A
.
9
2622146
420696
ACGGCGG
A
.
9
2622146
290493
ACGGCGGCGG
A
.
9
2622146
366356
ACGGCGGCGGCGG
A
.
9
2622165
366357
C
CATCCAG
.
9
2622167
366358
G
GCGGCGGCAC
.
9
2622170
420327
G
GCGGCAC
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622146
.
ACGGCGGCGG
A,ACGGCGG,ACGGCGGCGGCGG
.
9
2622154
~rs71329437
GGCGGCGGCG
G
.
9
2622167
~rs71329437
G
GCAC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622146
rs555425887
ACGGCGGCGGCGG
ACGGCGGCGGCGGCGG,ACGG,ACGGCGGCGG,ACGGCGG,A,ACGGCGGCGGCGGCGGCGG
24292288.70
9
2622147
.
C
CGGT
11650783.85
9
2622148
.
G
A
11422425.71
9
2622150
.
C
T,CGGT
11265111.73
9
2622151
.
G
T
11199016.51
9
2622153
.
C
G
11162556.61
9
2622155
.
G
A
11154992.44
9
2622156
.
C
CGGT,CGGA
198905.17
9
2622157
.
G
GGCC
83697.79
9
2622158
.
G
GCGA
83565.77
9
2622159
.
C
CGGT
602.89
9
2622161
.
G
A
75.08
9
2622162
rs765173464
C
CACCATCCA
885.73
9
2622163
.
G
T
34862.85
9
2622165
rs769751037
C
A
190.86
9
2622166
rs796239176
GGC
G
26190.92
9
2622167
rs557391935
G
GCGGCAC,GCGGCGGCAC
425214.59
9
2622168
rs746144949
C
CGGCACCATCCAGGCG,A
2626.19
9
2622169
.
G
GGCT
4703.10
9
2622170
.
G
GCGA,GCAC,GCGGCAC
5654.70
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622144
.
GAACGGCGGC
G
195.68
9
2622146
rs555425887
ACGGCGGCGG
A,ACGGCGGCGGCGG,ACGG,ACGGCGG,ACGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGGCGG
12055724.48
9
2622148
.
G
T
6795337.27
9
2622149
.
G
GCGT
6795301.86
9
2622152
.
G
T
6780898.19
9
2622155
.
G
A
6762461.17
9
2622162
rs765173464
C
CACCATCCA
377.48
9
2622163
.
G
A
208.92
9
2622166
rs796239176
GGC
AGC,G
869.25
9
2622167
rs557391935
G
GCGGCGGCAC,C
158449.54
9
2622170
.
G
GCAC,GCGGCAC
3948.84
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
2622146
.
ACGGCGGCGG
A
.
9
2622146
rs766346441
ACGG
ACGGCGG,A
.
9
2622146
rs760393260
ACGGCGG
A
.
9
2622146
rs369552432
ACGGCGGCGG
ACGG,ACGGCGG,ACGGCGGCGGCGG,ACGGCGGCGGCGGCGG,ACGGCGGCGGCGGCGGCGG,A
.
9
2622146
.
ACGGCGGCGGCGG
ACGG,A
.
9
2622147
.
CGGCGGCGGC
C
.
9
2622147
.
CGGCGGCGGCGGC
CGGC
.
9
2622147
.
CGGCGGCGGCGGCGGCGG
CGGCGGCGG
.
9
2622147
.
CGGCGGCGGCGGCGGCGGC
CGGCGGCGGC
.
9
2622147
.
CGGCGGCGGCGGCGGCGGCG
CGGCGGCGGCG
.
9
2622147
.
CGGCGGCGGCGGCGGCGGCGGCGG
CGGCGGCGGCGGCGG
.
9
2622147
.
CGGCGGCGGCGGCGGCGGCGGCGGCACCA
CGGCGGCGGCGGCGGCACCA
.
9
2622152
.
G
C
.
9
2622153
.
C
G
.
9
2622158
.
G
C
.
9
2622162
rs765173464
C
CACCATCCA
.
9
2622165
rs769751037
C
T
.
9
2622166
rs796239176
GGC
G
.
9
2622167
rs557391935
G
GCGGCAC,GCGGCGGCAC,GGC
.
9
2622168
rs746144949
C
CGGCACCATCCAGGCG
.