rs543610282 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: rs543610282 -  Homo sapiens

RGD ID: 28887932
RS ID: rs543610282
ClinVar ID: CV886474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 6,056,762
GRCh38 20 6,076,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017671.5:c.*1058T>G
NG_016213.1:g.52430T>G
NC_000020.11:g.6076115A>C
NC_000020.10:g.6056762A>C
More... 		01/13/2018 3 prime utr variant uncertain significance Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; Hereditary acrokeratotic poikiloderma of Weary; Kindler's syndrome; Poikiloderma of Kindler; Poikiloderma, congenital, with bullae, weary type; Poikiloderma, hereditary acrokeratotic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FERMT1
Accession:NM_017671
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:XM_024451935
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:XM_047440260
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:XM_047440259
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138238 CLINVAR
dbSNP (RS) rs543610282 CLINVAR
MedGen C0406557 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR