RGD:11615865 Rat Genome Database

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Variant: RGD:11615865 -  Homo sapiens

RGD ID: 11615865
RS ID: rs189133667
ClinVar ID: CV342411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,379,685
GRCh38 16 2,329,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011790.1:g.16063G>A
NC_000016.10:g.2329684C>T
NC_000016.9:g.2379685C>T
NM_001089.3:c.-368G>A
More... 		01/12/2018 5 prime utr variant likely benign|uncertain significance 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000289853 CLINVAR
dbSNP (RS) rs189133667 CLINVAR
MedGen C1970456 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR
  610921 CLINVAR