RGD:150426899 Rat Genome Database

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Variant: RGD:150426899 -  Homo sapiens

RGD ID: 150426899
RS ID: rs45536034
ClinVar ID: CV1188342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,335,902
GRCh38 16 2,285,901
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.3279-255A>G
NG_011790.1:g.59846A>G
NC_000016.10:g.2285901T>C
NC_000016.9:g.2335902T>C
 03/31/2019 intron variant likely 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 RCV001560194 CLINVAR
dbSNP (RS) rs45536034 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR