RGD:15149206 Rat Genome Database

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Variant: RGD:15149206 -  Homo sapiens

RGD ID: 15149206
RS ID: rs199764142
ClinVar ID: CV775931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861440  NECAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 8,234,988
GRCh38 12 8,082,392
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.95+9C>T
NG_034155.1:g.5182C>T
NC_000012.12:g.8082392C>T
NC_000012.11:g.8234988C>T
More...
11/26/2018 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 RCV001447508 CLINVAR
dbSNP (RS) rs199764142 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene LOC126861440 CLINVAR
  NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR