RGD:150409811 Rat Genome Database

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Variant: RGD:150409811 -  Homo sapiens

RGD ID: 150409811
RS ID: rs313908
ClinVar ID: CV1175437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,338,363
GRCh38 16 2,288,362
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.2288362C>G
NC_000016.9:g.2338363C>G
NG_011790.1:g.57385G>C
NM_001089.3:c.2701-33G>C
 07/14/2021 intron variant benign none provided; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3; 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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001544282 CLINVAR
  RCV001655863 CLINVAR
dbSNP (RS) rs313908 CLINVAR
MedGen C1970456 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR
  610921 CLINVAR