RGD:11607914 Rat Genome Database

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Variant: RGD:11607914 -  Homo sapiens

RGD ID: 11607914
RS ID: rs375720047
ClinVar ID: CV312745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 126,062,920
GRCh38 8 125,050,678
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.46142G>A
NC_000008.11:g.125050678C>T
NC_000008.10:g.126062920C>T
NM_014846.3:c.2098-13G>A
More...
03/28/2017 intron variant likely 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_014846
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Gene Symbol:WASHC5
Accession:NM_001330609
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422502
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422503
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000349003 CLINVAR
  RCV000611557 CLINVAR
  RCV002058701 CLINVAR
dbSNP (RS) rs375720047 CLINVAR
MedGen C1863704 CLINVAR
  CN169374 CLINVAR
NCBI Gene WASHC5 CLINVAR
OMIM 603563 CLINVAR
  610657 CLINVAR