RGD:11622298 Rat Genome Database

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Variant: RGD:11622298 -  Homo sapiens

RGD ID: 11622298
RS ID: rs192171507
ClinVar ID: CV337560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP29  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 21,242,738
GRCh38 22 20,888,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012152.1:g.34447C>G
NC_000022.11:g.20888450C>G
NC_000022.10:g.21242738C>G
NM_004782.4:c.*614C>G
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance infancy <1 / 1 000 000 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 RCV000358811 CLINVAR
dbSNP (RS) rs192171507 CLINVAR
MedGen C1836033 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR