RGD:11653894 Rat Genome Database

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Variant: RGD:11653894 -  Homo sapiens

RGD ID: 11653894
RS ID: rs886053941
ClinVar ID: CV348690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCF4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 52,889,883
GRCh38 18 55,222,652
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001243230.2:c.*5383T>C
NG_011716.2:g.418342T>C
NC_000018.10:g.55222652A>G
NC_000018.9:g.52889883A>G
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION; Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCF4
Accession:NM_001243231
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348217
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348213
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348215
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369578
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243233
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348214
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369584
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369586
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243232
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001306207
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369573
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369570
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348219
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348211
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001330605
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348216
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369571
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001306208
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348218
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369569
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369572
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369580
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348220
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369577
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369579
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369583
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001083962
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243227
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243234
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369582
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369575
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369568
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243226
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243230
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369567
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369581
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001330604
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243235
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369576
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369574
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_003199
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001348212
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243228
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001243236
Location:3UTRS;EXON

Gene Symbol:TCF4
Accession:NM_001369585
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000313956 CLINVAR
dbSNP (RS) rs886053941 CLINVAR
MedGen C1970431 CLINVAR
NCBI Gene TCF4 CLINVAR
OMIM 602272 CLINVAR
  610954 CLINVAR