RGD:11622612 Rat Genome Database

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Variant: RGD:11622612 -  Homo sapiens

RGD ID: 11622612
RS ID: rs45583636
ClinVar ID: CV334346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130058230  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,390,746
GRCh38 16 2,340,745
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.2340745G>C
NC_000016.9:g.2390746G>C
NM_001089.2:c.-711C>G
NG_011790.2:g.4983C>G
More... 		01/13/2018 5 prime utr variant benign|likely benign PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3; Surfactant metabolism dysfunction, pulmonary, 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362600 CLINVAR
dbSNP (RS) rs45583636 CLINVAR
MedGen C1970456 CLINVAR
NCBI Gene ABCA3 CLINVAR
  LOC130058230 CLINVAR
OMIM 601615 CLINVAR
  610921 CLINVAR