RGD:150434863 Rat Genome Database

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Variant: RGD:150434863 -  Homo sapiens

RGD ID: 150434863
RS ID: rs45466895
ClinVar ID: CV1215997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,373,927
GRCh38 16 2,323,926
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001089.3:c.448-238A>T
NG_011790.1:g.21821A>T
NC_000016.10:g.2323926T>A
NC_000016.9:g.2373927T>A
 09/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCA3
Accession:NM_001089
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001609186 CLINVAR
dbSNP (RS) rs45466895 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR