RGD:11601462 Rat Genome Database

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Variant: RGD:11601462 -  Homo sapiens

RGD ID: 11601462
RS ID: rs184708096
ClinVar ID: CV316813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 32,655,148
GRCh38 12 32,502,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304483.2:c.-1214G>A
NM_139241.3:c.-370G>A
NG_008626.2:g.107686G>A
NC_000012.12:g.32502214G>A
More... 		01/13/2018 5 prime utr variant uncertain significance CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; Charcot-Marie-Tooth Neuropathy Type 4H
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGD4
Accession:NM_001330373
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001304483
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_139241
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001384127
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001384131
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:XM_047428292
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001304484
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001370297
Location:5UTRS;EXON

Gene Symbol:FGD4
Accession:NM_001330374
Location:5UTRS;INTRON

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

Gene Symbol:FGD4
Accession:NM_001384130
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428297
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428295
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428293
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384126
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001385118
Location:INTRON

Gene Symbol:FGD4
Accession:XM_005253310
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001304481
Location:INTRON

Gene Symbol:FGD4
Accession:XM_011520558
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384128
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428291
Location:INTRON

Gene Symbol:FGD4
Accession:XM_011520559
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001370298
Location:INTRON

Gene Symbol:FGD4
Accession:NM_001384132
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428294
Location:INTRON

Gene Symbol:FGD4
Accession:XM_047428296
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282326 CLINVAR
dbSNP (RS) rs184708096 CLINVAR
MedGen C1836336 CLINVAR
NCBI Gene FGD4 CLINVAR
OMIM 609311 CLINVAR
  611104 CLINVAR