RGD:11581753 Rat Genome Database

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Variant: RGD:11581753 -  Homo sapiens

RGD ID: 11581753
RS ID: rs78593902
ClinVar ID: CV281100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805598  PLEKHG5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 6,537,576
GRCh38 1 6,477,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_262:g.47494G>A
NG_007978.1:g.47494G>A
NC_000001.11:g.6477516C>T
NC_000001.10:g.6537576C>T
More... 		01/13/2018 intron variant benign|likely benign Autosomal recessive lower motor neuron disease with childhood onset; Charcot-Marie-Tooth disease recessive intermediate C; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C; Distal spinal muscular atrophy, autosomal recessive 4; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLEKHG5
Accession:NM_001042665
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042664
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_198681
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265593
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000383238 CLINVAR
  RCV001707628 CLINVAR
  RCV002059496 CLINVAR
dbSNP (RS) rs78593902 CLINVAR
MedGen C1970211 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC126805598 CLINVAR
  PLEKHG5 CLINVAR
OMIM 611067 CLINVAR
  611101 CLINVAR
  615376 CLINVAR