RGD:8691325 Rat Genome Database

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Variant: RGD:8691325 -  Homo sapiens

RGD ID: 8691325
RS ID: rs2275495
ClinVar ID: CV141285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 111,644,396
GRCh38 9 108,882,116
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.3285+9C>T
LRG_251:g.57213C>T
NG_008788.1:g.57213C>T
NC_000009.12:g.108882116G>A
More... 		03/05/2019 intron variant benign|likely benign infancy <1 / 1 000 000 AllHighlyPenetrant; 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:NM_003640
Location:INTRON

Gene Symbol:ELP1
Accession:NM_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000125409 CLINVAR
  RCV000286410 CLINVAR
  RCV000860429 CLINVAR
dbSNP (RS) rs2275495 CLINVAR
MedGen C0013364 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene IKBKAP CLINVAR
OMIM 223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR