RGD:12847798 Rat Genome Database

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Variant: RGD:12847798 -  Homo sapiens

RGD ID: 12847798
RS ID: rs200483534
ClinVar ID: CV378782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRPX2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 99,917,332
GRCh38 X 100,662,335
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.23170G>A
NC_000023.11:g.100662335G>A
NC_000023.10:g.99917332G>A
NP_055282.1:p.Ser108Asn
More... 		09/10/2020 missense variant benign|likely benign 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: S to N (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYH
SSLGTRCELSCDRGFRLIGRRSVQCLPNRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRS
RICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICA
PMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSAN
IIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000864515 CLINVAR
  RCV001703502 CLINVAR
dbSNP (RS) rs200483534 CLINVAR
MedGen C1845070 CLINVAR
  C3661900 CLINVAR
NCBI Gene SRPX2 CLINVAR
OMIM 300642 CLINVAR
  300643 CLINVAR