RGD:10396980 Rat Genome Database

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Variant: RGD:10396980 -  Homo sapiens

RGD ID: 10396980
RS ID: rs141292909
ClinVar ID: CV203975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRPX2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 99,924,348
GRCh38 X 100,669,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021337.1:g.30186A>G
NC_000023.11:g.100669351A>G
NC_000023.10:g.99924348A>G
NP_055282.1:p.Asn400Ser
More... 		11/13/2018 missense variant likely benign|uncertain significance none provided; Rolandic epilepsy, impaired intellectual development, and speech dyspraxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRPX2
Accession:NM_014467
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYH
SSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRS
RICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICA
PMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSAS
IIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694901 CLINVAR
  RCV001705055 CLINVAR
dbSNP (RS) rs141292909 CLINVAR
MedGen C1845070 CLINVAR
  C3661900 CLINVAR
NCBI Gene SRPX2 CLINVAR
OMIM 300642 CLINVAR
  300643 CLINVAR