RGD:38460416 Rat Genome Database

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Variant: RGD:38460416 -  Homo sapiens

RGD ID: 38460416
RS ID: rs1817065747
ClinVar ID: CV920250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 126,088,751
GRCh38 8 125,076,509
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.268-9A>T
NM_014846.3:c.712-9A>T
NC_000008.10:g.126088751T>A
NG_012636.1:g.20311A>T
More... 		09/06/2019 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Gene Symbol:WASHC5
Accession:NM_001330609
Location:INTRON

Gene Symbol:WASHC5
Accession:NM_014846
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001196610 CLINVAR
dbSNP (RS) rs1817065747 CLINVAR
NCBI Gene WASHC5 CLINVAR
OMIM 610657 CLINVAR