RGD:28873939 Rat Genome Database

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Variant: RGD:28873939 -  Homo sapiens

RGD ID: 28873939
RS ID: rs552560669
ClinVar ID: CV890883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895410  SNAP29  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 21,213,341
GRCh38 22 20,859,053
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.-58C>A
NG_033052.2:g.4760G>T
NG_012152.1:g.5050C>A
NC_000022.11:g.20859053C>A
More... 		01/13/2018 5 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001146984 CLINVAR
dbSNP (RS) rs552560669 CLINVAR
MedGen C1836033 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR