RGD:150464285 Rat Genome Database

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Variant: RGD:150464285 -  Homo sapiens

RGD ID: 150464285
RS ID: rs116411821
ClinVar ID: CV1214914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,327,008
GRCh38 16 2,277,007
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.68740C>G
NC_000016.10:g.2277007G>C
NC_000016.9:g.2327008G>C
NM_001089.3:c.4984-202C>G
11/05/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCA3
Accession:NM_001089
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001613911 CLINVAR
dbSNP (RS) rs116411821 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR