RGD:15161054 Rat Genome Database

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Variant: RGD:15161054 -  Homo sapiens

RGD ID: 15161054
RS ID: rs771664405
ClinVar ID: CV760090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LTBP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 65,318,705
GRCh38 11 65,551,234
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130144.2:c.1622-10C>T
NM_001164266.1:c.1271-10C>T
NM_021070.4:c.1622-10C>T
NG_016437.1:g.11995C>T
More... 		06/05/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LTBP3
Accession:NM_001164266
Location:INTRON

Gene Symbol:LTBP3
Accession:NM_001130144
Location:INTRON

Gene Symbol:LTBP3
Accession:NM_021070
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925608 CLINVAR
dbSNP (RS) rs771664405 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LTBP3 CLINVAR
OMIM 602090 CLINVAR