RGD:127284345 Rat Genome Database

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Variant: RGD:127284345 -  Homo sapiens

RGD ID: 127284345
RS ID: rs369340432
ClinVar ID: CV1100157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 63,978,078
GRCh38 11 64,210,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382363.1:c.-380-5C>T
NM_001382364.1:c.-380-5C>T
NM_001382361.1:c.161-5C>T
NM_001382362.1:c.161-5C>T
More... 		02/03/2020 intron variant likely benign INTEGRIN ACTIVATION DEFICIENCY DISEASE; LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT; Leukocyte adhesion deficiency, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FERMT3
Accession:NM_001382363
Location:5UTRS;INTRON

Gene Symbol:FERMT3
Accession:NM_001382364
Location:5UTRS;INTRON

Gene Symbol:FERMT3
Accession:NM_001382361
Location:INTRON

Gene Symbol:FERMT3
Accession:XM_047427676
Location:INTRON

Gene Symbol:FERMT3
Accession:NM_178443
Location:INTRON

Gene Symbol:FERMT3
Accession:NM_001382362
Location:INTRON

Gene Symbol:FERMT3
Accession:NM_031471
Location:INTRON

Gene Symbol:FERMT3
Accession:NM_001382448
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001449343 CLINVAR
dbSNP (RS) rs369340432 CLINVAR
MedGen C2748536 CLINVAR
NCBI Gene FERMT3 CLINVAR
OMIM 607901 CLINVAR
  612840 CLINVAR