RGD:11630227 Rat Genome Database

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Variant: RGD:11630227 -  Homo sapiens

RGD ID: 11630227
RS ID: rs528593119
ClinVar ID: CV352173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP29  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 21,224,627
GRCh38 22 20,870,339
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.16336G>A
NC_000022.11:g.20870339G>A
NC_000022.10:g.21224627G>A
NP_004773.1:p.Glu80=
More...
12/18/2023 synonymous variant likely benign|uncertain significance infancy <1 / 1 000 000 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 E (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEE
LARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKY
QASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000343944 CLINVAR
  RCV003765975 CLINVAR
dbSNP (RS) rs528593119 CLINVAR
MedGen C1836033 CLINVAR
  C3661900 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR