RGD:156357790 Rat Genome Database

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Variant: RGD:156357790 -  Homo sapiens

RGD ID: 156357790
ClinVar ID: CV1891249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECAP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 8,244,353
GRCh38 12 8,091,757
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015509.4:c.302-12C>G
NG_034155.2:g.14485C>G
NC_000012.12:g.8091757C>G
NC_000012.11:g.8244353C>G
More... 		10/17/2022 intron 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:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003091479 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR