RGD:11632337 Rat Genome Database

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Variant: RGD:11632337 -  Homo sapiens

RGD ID: 11632337
RS ID: rs116644127
ClinVar ID: CV347125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895410  SNAP29  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 21,213,528
GRCh38 22 20,859,240
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
NM_004782.4:c.130T>C
NG_012152.1:g.5237T>C
NC_000022.11:g.20859240T>C
NC_000022.10:g.21213528T>C
More...
12/31/2019 missense variant benign|likely benign infancy <1 / 1 000 000 AllHighlyPenetrant; 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: Y to H (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQHLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEE
LARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKY
QASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000405531 CLINVAR
  RCV000516649 CLINVAR
  RCV000974375 CLINVAR
dbSNP (RS) rs116644127 CLINVAR
MedGen C1836033 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SNAP29 CLINVAR
OMIM 604202 CLINVAR
  609528 CLINVAR