RGD:34890543 Rat Genome Database

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Variant: RGD:34890543 -  Homo sapiens

RGD ID: 34890543
RS ID: rs369751598
ClinVar ID: CV905669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 32,763,775
GRCh38 12 32,610,841
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_240t1:c.1191+7G>A
LRG_240:g.216313G>A
NG_008626.2:g.216313G>A
NC_000012.12:g.32610841G>A
More... 		02/17/2020 intron variant likely benign Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGD4
Accession:NM_001370298
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001385118
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428293
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001304484
Location:INTRON

Gene Symbol:FGD4
Accession:XM_011520559
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001330374
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428297
Location:INTRON

Gene Symbol:FGD4
Accession:XM_005253310
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001330373
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384128
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384126
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428294
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001304483
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001370297
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384127
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384131
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001304481
Location:INTRON

Gene Symbol:FGD4
Accession:XM_011520558
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384130
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384132
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428292
Location:INTRON

Gene Symbol:FGD4
Accession:NM_139241
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428295
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428291
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428296
Location:INTRON

Gene Symbol:FGD4
Accession:XR_001748576
Location:INTRON;NON-CODING

Gene Symbol:FGD4
Accession:NR_168884
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001174092 CLINVAR
  RCV001416114 CLINVAR
dbSNP (RS) rs369751598 CLINVAR
MedGen C0007959 CLINVAR
  C4082197 CLINVAR
NCBI Gene FGD4 CLINVAR
OMIM 611104 CLINVAR
SNOMED CT 50548001 CLINVAR
  715795005 CLINVAR