RGD:13488036 Rat Genome Database

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Variant: RGD:13488036 -  Homo sapiens

RGD ID: 13488036
RS ID: rs201721676
ClinVar ID: CV445989
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCF4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 52,927,264
GRCh38 18 55,260,033
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011716.2:g.380961T>G
NC_000018.10:g.55260033A>C
NC_000018.9:g.52927264A>C
NM_001243228.2:c.1009-6T>G
More... 		12/11/2018 intron variant uncertain significance 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCF4
Accession:NM_001243231
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369567
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369585
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001083962
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348216
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369571
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369579
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243227
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243236
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348215
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369570
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348218
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369586
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369573
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243226
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243230
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001306208
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348219
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369577
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243228
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243234
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348211
Location:INTRON

Gene Symbol:TCF4
Accession:NM_003199
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243233
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243232
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243235
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001306207
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001330604
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348217
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001330605
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369574
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348220
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369575
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369581
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348214
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369572
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369568
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369583
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369576
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369569
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348212
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348213
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369584
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369578
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369580
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369582
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000523429 CLINVAR
  RCV000797687 CLINVAR
dbSNP (RS) rs201721676 CLINVAR
MedGen C1970431 CLINVAR
  C3661900 CLINVAR
NCBI Gene TCF4 CLINVAR
OMIM 602272 CLINVAR
  610954 CLINVAR