RGD:150454925 Rat Genome Database

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Variant: RGD:150454925 -  Homo sapiens

RGD ID: 150454925
RS ID: rs2049720
ClinVar ID: CV1266099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 15,514,982
GRCh38 2 15,374,858
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.3591-138A>G
NG_032964.1:g.191491A>G
NC_000002.12:g.15374858T>C
NC_000002.11:g.15514982T>C
 05/13/2021 intron variant benign none provided

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

Gene Symbol:NBAS
Accession:XM_011510357
Location:INTRON

Gene Symbol:NBAS
Accession:XM_011510361
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444734
Location:INTRON

Gene Symbol:NBAS
Accession:XM_017004317
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444735
Location:INTRON

Gene Symbol:NBAS
Accession:NM_015909
Location:INTRON

Gene Symbol:NBAS
Accession:XM_011510360
Location:INTRON

Gene Symbol:NBAS
Accession:XM_047444733
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 Information

Database Acc Id Source(s)
ClinVar RCV001692676 CLINVAR
dbSNP (RS) rs2049720 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NBAS CLINVAR
OMIM 608025 CLINVAR