| General information of RDP00548 | |
|---|---|
| Gene Symbol: | CHD7 |
| RefSeq ID: | NM_017780 |
| Repeat coordinate: | chr8:60679119-60679137 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.429; 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 |
| Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) | 608892 | 8q12.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | NM_017780 | 0.60 | 5 | 25 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60679117
rs757833708
GGGCGGCGGCGGC
GGGCGGCGGC,G,GGGCGGCGGCGGCGGC,GGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC
19879.81
8
60679129
.
C
T
5551.11
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60679117
rs757833708
GGGC
G
.
8
60679135
.
C
CG
.
8
60679137
.
G
GC
.