RGD:13822539 Rat Genome Database

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Variant: RGD:13822539 -  Homo sapiens

RGD ID: 13822539
RS ID: rs780390533
ClinVar ID: CV567066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861440  NECAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 8,234,940
GRCh38 12 8,082,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034155.1:g.5134T>C
NC_000012.12:g.8082344T>C
NC_000012.11:g.8234940T>C
NP_056324.2:p.Val19Ala
More... 		03/08/2018 missense variant uncertain significance Early infantile epileptic encephalopathy 21
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NECAP1
Accession:NM_015509
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATELEYESVLCVKPDVSAYRIPPRASNRGYRASDWKLDQPDWTGRLRITSKGKTAYIKLEDKVSGELFAQAPVEQYPGI
AVETVTDSSRYFVIRIQDGTGRSAFIGIGFTDRGDAFDFNVSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIK
LCIGNITNKKGGASKPRTARGGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF*

Gene Symbol:NECAP1
Accession:NR_024260
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000697456 CLINVAR
dbSNP (RS) rs780390533 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene LOC126861440 CLINVAR
  NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR