RGD:156208615 Rat Genome Database

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Variant: RGD:156208615 -  Homo sapiens

RGD ID: 156208615
ClinVar ID: CV2040470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,367,785
GRCh38 16 2,317,784
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001089.3:c.874-20G>A
NG_011790.2:g.27944G>A
NG_011790.1:g.27963G>A
NC_000016.10:g.2317784C>T
More... 		09/19/2022 intron variant benign none provided

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 RCV002790154 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR