RGD:151841375 Rat Genome Database

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Variant: RGD:151841375 -  Homo sapiens

RGD ID: 151841375
RS ID: rs2141705504
ClinVar ID: CV1428653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,345,743
GRCh38 16 2,295,742
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.2264-2A>G
NC_000016.10:g.2295742T>C
NC_000016.9:g.2345743T>C
NG_011790.2:g.49986A>G
More... 		09/10/2021 splice acceptor variant pathogenic none provided

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:27516224   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001994792 CLINVAR
dbSNP (RS) rs2141705504 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCA3 CLINVAR
OMIM 601615 CLINVAR