RGD:28890653 Rat Genome Database

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Variant: RGD:28890653 -  Homo sapiens

RGD ID: 28890653
RS ID: rs771849296
ClinVar ID: CV903648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRPX2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 99,924,332
GRCh38 X 100,669,335
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014467.3:c.1183C>T
NG_021337.1:g.30170C>T
NC_000023.11:g.100669335C>T
NC_000023.10:g.99924332C>T
More... 		05/03/2020 nonsense pathogenic 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: Q to * (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYH
SSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRS
RICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICA
PMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIRE*QLSAN
IIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001170033 CLINVAR
dbSNP (RS) rs771849296 CLINVAR
MedGen C1845070 CLINVAR
NCBI Gene SRPX2 CLINVAR
OMIM 300642 CLINVAR
  300643 CLINVAR