RGD:150531661 Rat Genome Database

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Variant: RGD:150531661 -  Homo sapiens

RGD ID: 150531661
RS ID: rs184755739
ClinVar ID: CV1311174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 2,369,472
GRCh38 16 2,319,471
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.873+110G>T
NC_000016.9:g.2369472C>A
NG_011790.1:g.26276G>T
NC_000016.10:g.2319471C>A
 04/25/2021 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 RCV001776909 CLINVAR
dbSNP (RS) rs184755739 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR