RGD:8597026 Rat Genome Database

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Variant: RGD:8597026 -  Homo sapiens

RGD ID: 8597026
RS ID: rs111033171
ClinVar ID: CV21124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 111,662,096
GRCh38 9 108,899,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_251t1:c.2204+6T>C
NC_000009.12:g.108899816A>G
NM_001318360.2:c.1862+6T>C
NM_003640.5:c.2204+6T>C
More... 		10/18/2019 intron variant pathogenic|uncertain significance|not provided neonatal/infancy <1 / 1 000 000 Charcot-Marie-Tooth Neuropathy; FD; Hereditary sensory and autonomic neuropathy 3; Hereditary sensory neuropathy type 3; HSAN 3; HSAN III; HSN 3; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; none provided; Riley Day syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

Gene Symbol:ELP1
Accession:NM_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Gene Symbol:ELP1
Accession:NM_003640
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:11179008   PMID:11179021   PMID:12116234   PMID:16964593   PMID:17206408   PMID:17576681   PMID:20301359   PMID:22190446   PMID:22850346   PMID:23515154   PMID:24033266  
PMID:25741868   PMID:27065010   PMID:28492532   PMID:29762696  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006458 CLINVAR
  RCV000058928 CLINVAR
  RCV000789357 CLINVAR
  RCV002460887 CLINVAR
  RCV003444194 CLINVAR
dbSNP (RS) rs111033171 CLINVAR
MedGen C0007959 CLINVAR
  C0013364 CLINVAR
  C0025149 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene IKBKAP CLINVAR
OMIM 155255 CLINVAR
  223900 CLINVAR
  603722 CLINVAR
OMIM Allele 603722.0001 CLINVAR
SNOMED CT 29159009 CLINVAR
  50548001 CLINVAR