RGD:156296066 Rat Genome Database

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Variant: RGD:156296066 -  Homo sapiens

RGD ID: 156296066
ClinVar ID: CV2111660
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 8,245,661
GRCh38 12 8,093,065
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.676+10G>A
NG_034155.2:g.15793G>A
NG_034155.1:g.15855G>A
NC_000012.12:g.8093065G>A
More... 		08/22/2022 intron variant likely benign 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 RCV002922354 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR