RGD:14723856 Rat Genome Database

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Variant: RGD:14723856 -  Homo sapiens

RGD ID: 14723856
RS ID: rs2027433
ClinVar ID: CV663589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 111,637,304
GRCh38 9 108,875,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330749.2:c.2809-54C>A
NM_001318360.2:c.3514-54C>A
NM_003640.5:c.3856-54C>A
NG_008788.1:g.64305C>A
More... 		06/19/2018 intron variant benign FD; Hereditary sensory and autonomic neuropathy 3; Hereditary sensory neuropathy type 3; HSAN 3; HSAN III; HSN 3; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; none provided; Riley Day syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELP1
Accession:NM_001318360
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Gene Symbol:ELP1
Accession:NM_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:NM_003640
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000832722 CLINVAR
  RCV001532855 CLINVAR
dbSNP (RS) rs2027433 CLINVAR
MedGen C0013364 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELP1 CLINVAR
OMIM 223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR