RGD:11635972 Rat Genome Database

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Variant: RGD:11635972 -  Homo sapiens

RGD ID: 11635972
RS ID: rs184015447
ClinVar ID: CV273904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEMD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 65,639,442
GRCh38 12 65,245,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016210.2:g.81092C>T
NM_001167614.2:c.2385-7C>T
NM_014319.5:c.2388-7C>T
NG_016210.1:g.81092C>T
More... 		05/01/2023 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:LEMD3
Accession:NM_014319
Location:INTRON

Gene Symbol:LEMD3
Accession:NM_001167614
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000260912 CLINVAR
  RCV000881699 CLINVAR
dbSNP (RS) rs184015447 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LEMD3 CLINVAR
OMIM 607844 CLINVAR