RGD:10048737 Rat Genome Database

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Variant: RGD:10048737 -  Homo sapiens

RGD ID: 10048737
RS ID: rs2384916
ClinVar ID: CV194462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 126,094,728
GRCh38 8 125,082,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012636.1:g.14334A>G
NC_000008.11:g.125082486T>C
NC_000008.10:g.126094728T>C
NM_001330609.2:c.-112-19A>G
More... 		02/24/2016 intron variant benign 3C syndrome; AllHighlyPenetrant; Cranio-cerebello-cardiac dysplasia; Dandy-Walker like malformation with atrioventricular septal defect; Dandy-Walker-like malformation with ASD; Ritscher-Schinzel cranio-cerebello-cardiac syndrome; Ritscher-Schinzel syndrome; SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WASHC5
Accession:NM_001330609
Location:5UTRS;INTRON

Gene Symbol:WASHC5
Accession:XM_047422503
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422502
Location:INTRON

Gene Symbol:WASHC5
Accession:NM_014846
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000178298 CLINVAR
  RCV002054109 CLINVAR
dbSNP (RS) rs2384916 CLINVAR
MedGen C1863704 CLINVAR
  CN169374 CLINVAR
NCBI Gene KIAA0196 CLINVAR
OMIM 603563 CLINVAR
  610657 CLINVAR