| General information of RDP00229 | |
|---|---|
| Gene Symbol: | CHD7 |
| RefSeq ID: | NM_017780 |
| Repeat coordinate: | chr8:60678765-60678789 (+) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.541; 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 ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60678776
363420
G
A
.
8
60678785
363421
G
A
.
8
60678785
363422
GGCGGCA
G
.
8
60678788
363423
G
A
.
8
60678788
363424
G
GGCGGCA
.
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60678764
.
CGCGGCG
CGCGGCGGCG,CGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCG,CGCGGCGGCGGCGGCGGCGGCG,C
7383433.45
8
60678766
.
C
G
82703.82
8
60678767
.
GGCGGCGGCGGCGGCGGCGGCGGCA
G,GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCGGCA
82022.08
8
60678770
.
GGCGGCGGCGGCGGCGGCGGCA
G,GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA
104234.33
8
60678773
.
GGCGGCGGCGGCGGCGGCA
GGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCA,G,GGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCA
29537.89
8
60678776
.
GGCGGCGGCGGCGGCA
G,GGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCA
79959.37
8
60678779
.
GGCGGCGGCGGCA
G,GGCGGCGGCGGCGGCAGCGGCGGCGGCA
82488.87
8
60678782
.
GGCGGCGGCA
G,GGCGGCGGCGGCAGCGGCGGCA
85430.90
8
60678785
rs865775134
GGCGGCA
G,GGCGGCAGCGGCA,GGCGGCGGCAGCGGCA
94178.60
8
60678786
.
G
GCGGCGT
94402.08
8
60678788
rs868087197
GGCA
G,GGCGGCAGCA
100053.23
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
60678764
.
CGCGGCG
C,CGCGGCGGCG
.
8
60678770
.
G
A
.
8
60678770
.
G
GGCGGCGGCGGCGGCA,GGCGGCGGCGGCGGCGGCGGCGGCA
.
8
60678773
.
GGCGGCGGCGGCGGCGGCA
G
.
8
60678775
.
C
A
.
8
60678776
.
GGCGGCGGCGGCGGCA
G
.
8
60678778
.
CG
C
.
8
60678785
.
G
GGCGGCGGCA
.
8
60678788
.
G
GGCGGCA
.