| General information of RDP00549 | |
|---|---|
| Gene Symbol: | C9orf72 |
| RefSeq ID: | NM_001256054 |
| Repeat coordinate: | chr9:27573210-27573234 (-) |
| Repeat size: | 8 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.011; 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 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3) | 614260 | 9p21.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Polyarthritis, Juvenile, Rheumatoid Factor Positive | NM_001256054 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
27573208
rs546630378
GCGCCGCCGCCGC
GCGCCGCCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGC,GCGCCGCCGC,GCGCCGCCGCCGCCGC,GCGCCGCCGCCGCCGCCGCCGCCGC,G
598579.11
9
27573215
rs117462033
C
T
2238096.43
9
27573219
.
G
A
24213.22
9
27573226
.
C
CCGA
677.47
9
27573228
.
G
GCCC
314.49
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
27573208
.
GCGC
GCGCCGC,G
.
9
27573208
.
GCGCCGCCGCCGC
G
.
9
27573213
.
GCC
GCT
.
9
27573215
rs117462033
C
T
.
9
27573215
.
CGCC
TGCC
.
9
27573218
rs536430900
C
G
.
9
27573228
.
G
GC
.
9
27573233
.
C
CG
.