RGD:11586235 Rat Genome Database

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Variant: RGD:11586235 -  Homo sapiens

RGD ID: 11586235
RS ID: rs770743674
ClinVar ID: CV304116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  WASHC5-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 126,056,063
GRCh38 8 125,043,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014846.4:c.2850+4T>C
NM_014846.3:c.2850+4T>C
NG_012636.1:g.52999T>C
NC_000008.11:g.125043821A>G
More... 		04/08/2019 intron variant likely benign|uncertain significance 3C syndrome; 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:INTRON

Gene Symbol:WASHC5
Accession:XM_047422503
Location:INTRON

Gene Symbol:WASHC5
Accession:NM_014846
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422502
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Gene Symbol:WASHC5-AS1
Accession:NR_170219
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000286638 CLINVAR
  RCV002523629 CLINVAR
  RCV003950284 CLINVAR
dbSNP (RS) rs770743674 CLINVAR
MedGen C1863704 CLINVAR
NCBI Gene WASHC5 CLINVAR
  WASHC5-AS1 CLINVAR
OMIM 603563 CLINVAR
  610657 CLINVAR