RGD:405076464 Rat Genome Database

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Variant: RGD:405076464 -  Homo sapiens

RGD ID: 405076464
ClinVar ID: CV3029235
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATL3  LOC126861231  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 63,398,958
GRCh38 11 63,631,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290048.2:c.1054-15C>A
NM_015459.5:c.1108-15C>A
NG_085730.1:g.318G>T
NG_033985.1:g.45489C>A
More... 		05/03/2023 intron variant likely benign Hereditary sensory neuropathy type IF; HSN IF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATL3
Accession:NM_015459
Location:INTRON

Gene Symbol:ATL3
Accession:XM_006718493
Location:INTRON

Gene Symbol:ATL3
Accession:NM_001290048
Location:INTRON

Gene Symbol:ATL3
Accession:XM_047426725
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003743183 CLINVAR
MedGen C3810194 CLINVAR
NCBI Gene ATL3 CLINVAR
  LOC126861231 CLINVAR
OMIM 609369 CLINVAR
  615632 CLINVAR