RGD:34888371 Rat Genome Database

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Variant: RGD:34888371 -  Homo sapiens

RGD ID: 34888371
RS ID: rs773132143
ClinVar ID: CV917469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 111,641,721
GRCh38 9 108,879,441
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.2525+5G>A
NM_001318360.2:c.3230+5G>A
LRG_251t1:c.3572+5G>A
NM_003640.3:c.3572+5G>A
More... 		05/06/2020 intron variant uncertain significance AllHighlyPenetrant; Familial dysautonomia; 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_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Gene Symbol:ELP1
Accession:NM_003640
Location:INTRON

Gene Symbol:ELP1
Accession:NM_001318360
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001194428 CLINVAR
  RCV001220783 CLINVAR
  RCV001833753 CLINVAR
  RCV002462352 CLINVAR
  RCV002504221 CLINVAR
dbSNP (RS) rs773132143 CLINVAR
MedGen C0013364 CLINVAR
  C0025149 CLINVAR
  C0950123 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene ELP1 CLINVAR
OMIM 155255 CLINVAR
  223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR