General information of RDP00544
Gene Symbol:PLEC
RefSeq ID:NM_000445
Repeat coordinate:chr8:143953448-143953475 (-)
Repeat size:9
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.012; 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:
PhenotypeOMIM_idLocation
Muscular dystrophy, limb-girdle, type 2Q, 613723 (3)6012828q24.3
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHYNM_0004450.4006CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
143953448
.
CCCGCCG
CCCGCCGCCG,CCCGCCGCCGCCGCCG,CCCG,CCCGCCGCCGCCGCCGCCG,C,CCCGCCGCCGCCG
1320651.95
8
143953451
.
G
A
77507.02
8
143953455
.
C
A
10946.21
8
143953456
.
C
A
10577.40
8
143953468
rs541444841
C
T
3188.70
8
143953473
.
C
T
470.47
8
143953474
.
C
CGCT,G,T
2924.33
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
143953448
.
CCCGCCG
C
.
8
143953448
.
CCCGCCGCCGCCGCCG
C
.
8
143953461
.
C
G
.
8
143953466
.
G
C
.
8
143953468
rs541444841
C
T
.