RGD:28867474 Rat Genome Database

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Variant: RGD:28867474 -  Homo sapiens

RGD ID: 28867474
RS ID: rs553412034
ClinVar ID: CV898809
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 126,036,682
GRCh38 8 125,024,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330609.2:c.*177A>C
NC_000008.11:g.125024440T>G
NC_000008.10:g.126036682T>G
NM_014846.3:c.*177A>C
More... 		01/13/2018 3 prime utr variant uncertain significance SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WASHC5
Accession:NM_014846
Location:3UTRS;EXON

Gene Symbol:WASHC5
Accession:NM_001330609
Location:3UTRS;EXON

Gene Symbol:WASHC5
Accession:XM_047422502
Location:3UTRS;EXON

Gene Symbol:WASHC5
Accession:XM_047422503
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161907 CLINVAR
dbSNP (RS) rs553412034 CLINVAR
MedGen C1863704 CLINVAR
NCBI Gene WASHC5 CLINVAR
OMIM 603563 CLINVAR
  610657 CLINVAR