RGD:11634012 Rat Genome Database

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Variant: RGD:11634012 -  Homo sapiens

RGD ID: 11634012
RS ID: rs13299651
ClinVar ID: CV310577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 111,630,135
GRCh38 9 108,867,855
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_251:g.71474C>T
NG_008788.1:g.71474C>T
NC_000009.12:g.108867855G>A
NC_000009.11:g.111630135G>A
More...
01/13/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 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; Riley Day syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELP1
Accession:NM_003640
Location:3UTRS;EXON

Gene Symbol:ELP1
Accession:NM_001318360
Location:3UTRS;EXON

Gene Symbol:ELP1
Accession:NM_001330749
Location:3UTRS;EXON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387729 CLINVAR
dbSNP (RS) rs13299651 CLINVAR
MedGen C0013364 CLINVAR
NCBI Gene IKBKAP CLINVAR
OMIM 223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR