| General information of RDP00297 | |
|---|---|
| Gene Symbol: | KCNMA1 |
| RefSeq ID: | NM_001014797 |
| Repeat coordinate: | chr10:77637586-77637607 (-) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 1.000; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGGG |
| 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 |
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3) | 600150 | 10q22.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | NM_001014797 | 0.41 | 1 | 1 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637579
444228
TGCTGCCTCCGCCGCCGCCGCCGCCGCC
T
.
10
77637588
129327
CGCCGCCGCCGCCGCCGCCGCTGCT
C
.
10
77637591
464298
CGCCGCCGCCGCCGCCGCTGCT
C
.
10
77637594
300972
C
G
.
10
77637606
300973
CGCT
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637586
.
TCCG
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637577
.
ACTGCTGCCTCCGCCGCCGCCGCCGCCGCCG
A
1220.97
10
77637586
rs760628050
TCCGCCGCCGCCGCCGCCGCCGCTGCTG
TCCGCCGCCGCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCCGCCGCCGCCGCTGCTG,T,TCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCTGCTG
164644.69
10
77637587
rs199979410
C
CCG
130875.49
10
77637588
rs587780364
CGCCGCCGCCGCCGCCGCCGCTGCT
C
138274.78
10
77637589
.
G
A
134043.57
10
77637590
.
C
T
29558.37
10
77637591
.
CGCCGCCGCCGCCGCCGCTGCT
C
53730.28
10
77637593
.
C
T
50302.36
10
77637594
rs759136661
CGCCGCCGCCGCCGCTGCT
C,CGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCTGCT
58723.74
10
77637597
rs764959353
CGCCGCCGCCGCTGCT
CGCCGCCGCCGCTGCTGCCGCCGCCGCTGCT,C,TGCCGCCGCCGCTGCT
58381.44
10
77637598
.
G
T,A
58100.43
10
77637601
.
G
A,C
54213.46
10
77637603
.
C
T,CGCT
54695.05
10
77637604
.
GCCGCTGCTGCCGCCGCCGCCGCCGCCA
ACCGCTGCTGCCGCCGCCGCCGCCGCCA,G
55223.65
10
77637605
.
C
T
54277.94
10
77637606
rs767828868
CGCTGCT
TGCTGCT,CGCTGCTGCT,CGCT,C
73627.56
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637586
rs760628050
TCCGCCGCCGCCGCCGCCGCCGCTGCTG
TCCGCCGCCGCCGCCGCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCTG,TCCGCCGCCGCCGCTGCTG,T,TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCTG
12872.02
10
77637588
rs587780364
CGCCGCCGCCGCCGCCGCCGCTGCT
C
4547.17
10
77637589
.
G
C
5164.26
10
77637591
.
CGCCGCCGCCGCCGCCGCTGCT
C
4804.28
10
77637594
rs759136661
C
CGCCGCCGCCGCCGCTGCT
9877.62
10
77637595
rs867072885
G
T
5555.97
10
77637603
.
C
CGCCGCTGCT
5383.48
10
77637606
rs767828868
C
CGCT
5717.36
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
77637586
rs773192072
TCCG
T
.
10
77637586
rs776238166
TCCGCCGCCG
TCCGCCG,TCCGCCGCCGCCG,TCCGCCGCCGCCGCCG,T
.
10
77637587
rs199979410
C
A
.
10
77637588
rs587780364
CGCCGCCGCCGCCGCCGCCGCTGCT
C
.
10
77637589
.
G
C
.
10
77637591
.
CGCCGCCGCCGCCGCCGCTGCT
C
.
10
77637594
rs759136661
C
CGCCGCCGCCGCCGCTGCT
.
10
77637597
rs764959353
C
CGCCGCCGCCGCTGCT
.
10
77637597
rs752334052
CGCCGCCGCCGCTGCT
C
.
10
77637598
.
G
C
.
10
77637601
.
G
A
.
10
77637606
.
C
T
.
10
77637606
rs767828868
C
CGCT
.
10
77637606
rs757636988
CGCT
C,CGCTGCT
.