RGD:12893303 Rat Genome Database

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Variant: RGD:12893303 -  Homo sapiens

RGD ID: 12893303
RS ID: rs1064795236
ClinVar ID: CV410919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP29  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,241,969
GRCh38 22 20,887,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012152.1:g.33678G>T
NC_000022.11:g.20887681G>T
NC_000022.10:g.21241969G>T
NP_004773.1:p.Glu208Ter
More... 		05/23/2022 nonsense pathogenic|likely pathogenic Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNAP29
Accession:NM_004782
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEE
LARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKY
QASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLD*LSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL*
Variant Samples
Additional References at PubMed
PMID:33977139  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000478546 CLINVAR
  RCV002251743 CLINVAR
dbSNP (RS) rs1064795236 CLINVAR
MedGen C1836033 CLINVAR
  CN517202 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR
OMIM Allele 604202.0005 CLINVAR