RGD:28876340 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28876340 -  Homo sapiens

RGD ID: 28876340
RS ID: rs1827312944
ClinVar ID: CV900818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 111,630,626
GRCh38 9 108,868,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318360.2:c.*769T>A
NG_008788.1:g.70983T>A
NC_000009.12:g.108868346A>T
LRG_251t1:c.*769T>A
More...
01/12/2018 3 prime utr variant uncertain significance 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 RCV001166115 CLINVAR
dbSNP (RS) rs1827312944 CLINVAR
MedGen C0013364 CLINVAR
NCBI Gene ELP1 CLINVAR
OMIM 223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR