RGD:10396987 Rat Genome Database

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Variant: RGD:10396987 -  Homo sapiens

RGD ID: 10396987
RS ID: rs149051060
ClinVar ID: CV203973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRPX2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 99,922,339
GRCh38 X 100,667,342
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.28177C>A
NC_000023.11:g.100667342C>A
NC_000023.10:g.99922339C>A
NP_055282.1:p.Leu344Ile
More...
08/16/2018 missense variant likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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: L to I (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYH
SSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRS
RICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICA
PMKINVNVNSAAGLLDQFYEKQRILIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSAN
IIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE*

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000189575 CLINVAR
  RCV000625846 CLINVAR
  RCV000713523 CLINVAR
dbSNP (RS) rs149051060 CLINVAR
MedGen C1845070 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SRPX2 CLINVAR
OMIM 300642 CLINVAR
  300643 CLINVAR