RGD:28903052 Rat Genome Database

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Variant: RGD:28903052 -  Homo sapiens

RGD ID: 28903052
RS ID: rs191082970
ClinVar ID: CV890925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP29  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 21,245,357
GRCh38 22 20,891,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004782.4:c.*3233A>G
NG_012152.1:g.37066A>G
NC_000022.11:g.20891069A>G
NC_000022.10:g.21245357A>G
More... 		01/13/2018 3 prime utr variant uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNAP29
Accession:NM_004782
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001143851 CLINVAR
dbSNP (RS) rs191082970 CLINVAR
MedGen C1836033 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR