RGD:28884636 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28884636 -  Homo sapiens

RGD ID: 28884636
RS ID: rs1644367397
ClinVar ID: CV864719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF25  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 6,526,218
GRCh38 1 6,466,158
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_262:g.58852A>G
NG_029910.1:g.5038A>G
NG_007978.1:g.58852A>G
NC_000001.11:g.6466158T>C
More...
01/12/2018 3 prime utr variant|5 prime utr variant uncertain significance Autosomal recessive lower motor neuron disease with childhood onset; Distal spinal muscular atrophy, autosomal recessive 4; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLEKHG5
Accession:NM_001042664
Location:3UTRS;EXON

Gene Symbol:PLEKHG5
Accession:NM_001042665
Location:3UTRS;EXON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:3UTRS;EXON

Gene Symbol:PLEKHG5
Accession:NM_001265593
Location:3UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_148970
Location:5UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_148967
Location:5UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_148966
Location:5UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_003790
Location:5UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_148965
Location:5UTRS;EXON

Gene Symbol:TNFRSF25
Accession:NM_001039664
Location:5UTRS;EXON

Gene Symbol:PLEKHG5
Accession:NM_198681
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097872 CLINVAR
dbSNP (RS) rs1644367397 CLINVAR
MedGen C1970211 CLINVAR
NCBI Gene PLEKHG5 CLINVAR
  TNFRSF25 CLINVAR
OMIM 603366 CLINVAR
  611067 CLINVAR
  611101 CLINVAR