RGD:155663806 Rat Genome Database

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Variant: RGD:155663806 -  Homo sapiens

RGD ID: 155663806
ClinVar ID: CV1842020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,339,638
GRCh38 16 2,289,637
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.2289637A>G
NC_000016.9:g.2339638A>G
NM_001089.3:c.2514-17T>C
NG_011790.2:g.56091T>C
More... 		01/29/2024 intron variant likely benign|uncertain significance none provided; Pulmonary surfactant metabolism dysfunction
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002434942 CLINVAR
  RCV003775280 CLINVAR
MedGen C3661900 CLINVAR
  C3711368 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR