RGD:38597374 Rat Genome Database

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Variant: RGD:38597374 -  Homo sapiens

RGD ID: 38597374
RS ID: rs376429116
ClinVar ID: CV965231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,374,397
GRCh38 16 2,324,396
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.2324396C>T
NC_000016.9:g.2374397C>T
NM_001089.3:c.447+8G>A
NG_011790.1:g.21351G>A
More... 		06/17/2020 intron variant likely benign|uncertain significance none provided; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3; Pulmonary surfactant metabolism dysfunction; Surfactant metabolism dysfunction, pulmonary, 3
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254625 CLINVAR
  RCV002069350 CLINVAR
  RCV002327607 CLINVAR
  RCV003973166 CLINVAR
dbSNP (RS) rs376429116 CLINVAR
MedGen C1970456 CLINVAR
  C3661900 CLINVAR
  C3711368 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR
  610921 CLINVAR