RGD:13541445 Rat Genome Database

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Variant: RGD:13541445 -  Homo sapiens

RGD ID: 13541445
RS ID: rs149897637
ClinVar ID: CV502086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 111,642,319
GRCh38 9 108,880,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_251t1:c.3460+13G>T
LRG_251:g.59290G>T
NG_008788.1:g.59290G>T
NC_000009.12:g.108880039C>A
More... 		07/10/2017 intron variant likely benign AllHighlyPenetrant; none provided

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

Gene Symbol:ELP1
Accession:NM_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:NM_003640
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000616168 CLINVAR
  RCV002529620 CLINVAR
dbSNP (RS) rs149897637 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ELP1 CLINVAR
OMIM 603722 CLINVAR