| General information of RDP00567 | |
|---|---|
| Gene Symbol: | MYH6 |
| RefSeq ID: | NM_002471 |
| Repeat coordinate: | chr14:23397934-23398024 (-) |
| Repeat size: | 30 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.003; 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 |
| {Sick sinus syndrome 3}, 614090 (3) | 160710 | 14q11.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Hypertrophic obstructive cardiomyopathy | NM_002471 | 0.31 | 2 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23397926
.
CTCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
CTCT,CTCTTCT,CTCTTCTTCT,C
7469.67
14
23397929
rs113881999
CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
CTCCTCCTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT,CTCTTCTTCTTCT,C,CTCTTCT,CTCT
32544.69
14
23397934
.
CTT
C,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTTTT
564565.58
14
23397935
rs28535772
T
C,TCC,TCCTCCTCC,TCCTCC,TCCTCCTCCTCC
890499.93
14
23397936
rs538654807
T
C
492400.23
14
23397937
rs558939500
CTTCTTCTTCTTCT
CTCT,CTCTTCT,CTCTTCTTCT,C,CTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCT
453696.31
14
23397938
rs137908669
T
C,TTCTTCTTCTTCC
745879.75
14
23397939
.
T
C
425975.39
14
23397940
.
CTT
CTTTTT,CTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTT,C
486226.27
14
23397941
.
T
C,TTCTTCTTCC,TTTTTCTTCTTCTTCC,TTTTTCTTCTTCTTCTTCTTCC
519017.98
14
23397943
.
C
T,CTTCTTCTTCTTCTTCTTCTTCTTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTT,CTTCTTCTTCTTT,CTTCTTCTTCTTCTTCTTCTTCTAT
429109.16
14
23397944
.
T
C,TTCA,TTCTTCC,TTCC
440631.52
14
23397946
rs77024096
C
CTTCTTCTTCTTCTTCTTCTTT,CTTCTTCTTT,CTTCTTCTTCTTCTTCTTCTAT,CTTCTTCTTCTTCTTCTTCTTCTTT
362319.04
14
23397947
.
T
C,TTCC
326519.43
14
23397949
rs773151161
CTT
CTTCTTCTTCTTCTTCTTTTT,CTTCTTCTTCTTCTTCTTCTTTTT,C,CTTCTTTTT,CTTCTTCTTCTTCTTCTATTT
314284.84
14
23397950
rs866302886
T
C,TTCC
255102.49
14
23397951
.
T
TC
142762.98
14
23397952
rs866754289
CT
CTTTT,C,CTTCTTCTTCTTCTTTT,CTTCTTCTTCTTCTTCTTTT,CTTCTTCTTCTTCTATT
288040.67
14
23397953
rs557351240
T
C,TCC,TTCTTCCTCTTCTTCTTCTTCTTCC,TTCTTCC
196812.65
14
23397954
rs571436133
TC
T,CC
106329.47
14
23397955
rs537318000
CTTCTT
CTTCTTCTTCTTTTTCTT,TTTCTT,C,CTTCTTCTTTTTCTT,CTTCTTCTTCTATTTCTT
209298.27
14
23397956
.
TTCTTCTTCTTC
CTCTTCTTCTTC,TTTCTTCTTC,T,TTTC,TTTCTTC
132202.14
14
23397958
.
C
CTTCTTCTTT,T,CTTCTTCTAT,CTTCTTCTTCTTT,CTTT
104627.62
14
23397959
.
T
C
101201.87
14
23397961
rs547103332
C
CTTCTTT,T,CTTT,CTTCTAT,CTTCTTCTAT
73524.18
14
23397962
.
T
C,TTCC,TTCTTCC
74127.95
14
23397964
rs574267008
C
CTTT,T,CTAT,CTATTTT
45884.51
14
23397965
.
T
C,TTCC
55185.88
14
23397966
.
TC
AC,T
32923.52
14
23397967
rs28727361
C
T,CTTT
56826.70
14
23397968
.
TTCTTC
CTCTTC,TTTC,T
27879.84
14
23397969
.
T
A
11791.51
14
23397970
rs548084038
C
T
13378.83
14
23397971
.
T
C
15517.79
14
23397973
.
C
T
6799.80
14
23397974
.
T
C
6782.55
14
23397976
.
C
T,G
4133.57
14
23397977
.
T
C
3193.31
14
23397980
.
T
C
3376.12
14
23397982
.
C
CTTCTTT
2918.50
14
23397987
.
T
TCTTCTTCTTCTC
3190.59
14
23397988
.
CTT
C
2952.58
14
23397989
.
T
TTCC
2901.68
14
23397993
.
T
A
76.61
14
23397994
.
CTT
C
446.82
14
23397997
.
C
T
70.70
14
23398003
.
CTT
CTTCTTCTTTTT,C
567
14
23398004
.
T
C
422.20
14
23398005
.
T
C
297.82
14
23398006
.
C
T
59.45
14
23398011
.
T
A
234.22
14
23398012
.
C
T
104.17
14
23398013
.
T
TTCTTCC
407.29
14
23398015
.
CTT
C,TTT
243.49
14
23398017
.
T
A
316.88
14
23398018
.
CT
C
154.91
14
23398023
rs181576757
T
A
124.85
14
23398024
.
C
CTT,CTTCTT,CTTCTTCTTCTTCTTCTT,CTTCTTCTTCTT,CTTCTTCTT
7617.75
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
23397929
.
CTCCTCT
C
.
14
23397929
rs553445763
CTCCTCT
C
.
14
23397930
.
TCCTCTTCT
TCCTCCTCC
.
14
23397932
rs56745063
CTCT
C,CTCC
.
14
23397932
rs55907025
CTCTTCT
C,CTCCTCC
.
14
23397932
rs56242004
CTCTTCTTCT
C,CTCCTCTTCT
.
14
23397932
rs746390710
CTCTTCTTCTTCTTCTTCT
C
.
14
23397934
rs28535772
CT
CC,C
.
14
23397935
.
TTCT
C,CTCC
.
14
23397935
.
TTCTTCT
C,CTCTTCT
.
14
23397935
.
TTCTTCTTCTTCTTCTTCT
C,TTCTTCTTCTTCTATTTCT
.
14
23397935
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
.
14
23397935
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
.
14
23397936
rs538654807
T
G
.
14
23397937
rs558939500
C
T
.
14
23397938
rs137908669
T
C
.
14
23397941
.
T
C
.
14
23397944
.
T
C
.
14
23397946
rs77024096
C
T
.
14
23397946
rs71119022
C
CTTCTTCTTCTTCTTCTTCTTT
.
14
23397947
.
T
C
.
14
23397949
rs773151161
C
CTTCTTCTTCTTCTTCTTCTTT
.
14
23397949
.
CT
CC,C
.
14
23397952
.
C
T
.
14
23397953
rs557351240
T
C
.
14
23397954
rs571436133
T
C
.
14
23397955
rs537318000
C
T
.
14
23397956
.
T
C
.
14
23397958
.
C
T
.
14
23397961
rs547103332
C
T
.
14
23397962
.
T
C
.
14
23397964
rs574267008
C
T
.
14
23397965
.
T
C
.
14
23397966
.
T
A
.
14
23397967
rs28727361
C
T
.
14
23397968
.
T
C
.
14
23397970
rs548084038
C
T
.
14
23397973
.
C
T
.
14
23397978
.
T
G
.
14
23397980
.
T
C
.
14
23397983
.
T
A,C
.
14
23397984
.
T
C
.
14
23397985
.
CTT
CATC
.
14
23397986
.
T
C
.
14
23397986
.
TT
ATC
.
14
23397986
.
TTCTTC
TTCCTTC
.
14
23397987
.
T
TC
.
14
23397987
.
T
TC
.
14
23397988
.
C
T
.
14
23397988
.
C
CT
.
14
23397989
.
TT
AG
.
14
23397992
rs569576051
T
C
.
14
23397993
.
TC
AT
.
14
23397994
.
C
T
.
14
23397995
.
T
C
.
14
23398000
.
CT
GG
.
14
23398016
.
TT
CG
.
14
23398023
rs181576757
T
A
.