RGD:150425178 Rat Genome Database

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Variant: RGD:150425178 -  Homo sapiens

RGD ID: 150425178
RS ID: rs73500154
ClinVar ID: CV1185086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,328,146
GRCh38 16 2,278,145
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.4719-76C>G
NG_011790.1:g.67602C>G
NC_000016.10:g.2278145G>C
NC_000016.9:g.2328146G>C
 08/04/2020 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 RCV001557666 CLINVAR
dbSNP (RS) rs73500154 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR