RGD:405091311 Rat Genome Database

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Variant: RGD:405091311 -  Homo sapiens

RGD ID: 405091311
ClinVar ID: CV2981278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LFNG  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 2,564,393
GRCh38 7 2,524,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166355.2:c.268+16G>C
NM_001040167.2:c.481+16G>C
NM_001040168.2:c.481+16G>C
NM_002304.3:c.94+16G>C
More... 		06/22/2023 intron variant likely benign Spondylocostal dysostosis 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LFNG
Accession:NM_001166355
Location:INTRON

Gene Symbol:LFNG
Accession:NM_002304
Location:INTRON

Gene Symbol:LFNG
Accession:NM_001040168
Location:INTRON

Gene Symbol:LFNG
Accession:NM_001040167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003613752 CLINVAR
MedGen C1853296 CLINVAR
NCBI Gene LFNG CLINVAR
OMIM 602576 CLINVAR
  609813 CLINVAR