RGD:11652157 Rat Genome Database

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Variant: RGD:11652157 -  Homo sapiens

RGD ID: 11652157
RS ID: rs886062987
ClinVar ID: CV314693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAI2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 49,833,837
GRCh38 8 48,921,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012130.1:g.5152A>T
NC_000008.11:g.48921278T>A
NC_000008.10:g.49833837T>A
NM_003068.5:c.-13A>T
More... 		06/14/2016 5 prime utr variant uncertain significance infancy Piebald skin depigmentation
Disease Annotations     Click to see Annotation Detail View
piebaldism  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SNAI2
Accession:NM_003068
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000303169 CLINVAR
dbSNP (RS) rs886062987 CLINVAR
MedGen C0080024 CLINVAR
NCBI Gene SNAI2 CLINVAR
OMIM 172800 CLINVAR
  602150 CLINVAR