DRED

General information of RDP00136
Gene Symbol:LINGO3
RefSeq ID:NM_001101391
Repeat coordinate:chr19:2308143-2308173 (-)
Repeat size:10
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.001; 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
Symmetric circumferential skin creases, congenital, 2, 616734 (3)60578918q12.1-q12.2
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2NM_0011438260.6015GENOMICS_ENGLAND;UNIPROT
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
34976950
rs532329984
G
A
16884.97
18
34976955
.
C
T
291.47
18
34976963
.
G
A
2844.67
19
2308142
rs540002564
AGCCGCCGCC
AGCCGCCGCCGCC,AGCCGCCGCCGCCGCC,AGCCGCC,AGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCC,A
5803891.63
19
2308143
.
GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCC
G
365294.36
19
2308145
.
C
CGCT,A
317367.84
19
2308148
.
C
T,CGCCGCA
134061.49
19
2308157
.
C
CGCCGCT
71402.16
19
2308159
.
CCGCCGCCGCCGCCGCCTCCCGGGCTCCGCCGTGCG
C
66390.61
19
2308162
.
C
CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGG,CCGCCGCCGCCGCCTCCCGGGCTCCGCCGTGCG,CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGG
42265.45
19
2308165
.
C
CCGCCGCCGCCGCCTCCCGGGCTCCGCCGTGCG
5512.57
19
2308172
.
C
T
868.63
19
2308173
.
GCCTC
G
841.74
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
18
34976947
.
AGCG
A
.
18
34976950
rs532329984
G
A
.
19
2308142
.
AGCC
A,AGCCGCC,AGCCGCCGCC
.
19
2308142
.
AGCCGCCGCC
A
.
19
2308142
.
AGCCGCCGCCGCCGCCGCC
A
.
19
2308142
.
AGCCGCCGCCGCCGCCGCCGCC
A,AGCCGCCGCCGCCGCCGCCGCCGCC
.
19
2308145
.
C
CGCT
.
19
2308153
.
CCG
CCT
.