RGD:127303956 Rat Genome Database

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Variant: RGD:127303956 -  Homo sapiens

RGD ID: 127303956
RS ID: rs1125534
ClinVar ID: CV1153841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 15,618,339
GRCh38 2 15,478,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015909.4:c.1147+11C>T
NG_032964.1:g.88134C>T
NC_000002.12:g.15478215G>A
NC_000002.11:g.15618339G>A
 05/13/2021 intron variant benign AllHighlyPenetrant; none provided; Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NBAS
Accession:XM_011510358
Location:INTRON

Gene Symbol:NBAS
Accession:XM_011510361
Location:INTRON

Gene Symbol:NBAS
Accession:XM_011510357
Location:INTRON

Gene Symbol:NBAS
Accession:XM_011510360
Location:INTRON

Gene Symbol:NBAS
Accession:XM_017004317
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444735
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444734
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444733
Location:INTRON

Gene Symbol:NBAS
Accession:NM_015909
Location:INTRON

Gene Symbol:NBAS
Accession:XR_007076390
Location:INTRON;NON-CODING

Gene Symbol:NBAS
Accession:NR_052013
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001515683 CLINVAR
  RCV001528425 CLINVAR
  RCV001779227 CLINVAR
  RCV001779228 CLINVAR
dbSNP (RS) rs1125534 CLINVAR
MedGen C3541319 CLINVAR
  C3661900 CLINVAR
  C3809651 CLINVAR
  CN169374 CLINVAR
NCBI Gene NBAS CLINVAR
OMIM 608025 CLINVAR
  614800 CLINVAR
  615486 CLINVAR
  616483 CLINVAR