RGD:8561216 Rat Genome Database

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Variant: RGD:8561216 -  Homo sapiens

RGD ID: 8561216
RS ID: rs137852561
ClinVar ID: CV24905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 49,048,187
GRCh38 X 49,191,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012532.1:g.13475G>C
NC_000023.11:g.49191730C>G
NC_000023.10:g.49048187C>G
NP_003170.1:p.Gly217Arg
More...
02/17/2012 missense variant pathogenic childhood INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYP
Accession:NM_003179
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQV
YFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAW
AKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVRNLWFVFKETGWAAPFLRAPPGAP
EKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM*

Variant Samples
Additional References at PubMed
PMID:19377476  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010541 CLINVAR
dbSNP (RS) rs137852561 CLINVAR
MedGen C3275408 CLINVAR
NCBI Gene SYP CLINVAR
OMIM 300802 CLINVAR
  313475 CLINVAR
OMIM Allele 313475.0004 CLINVAR