rs80237187 Rat Genome Database

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Variant: rs80237187 -  Homo sapiens

RGD ID: 150423607
RS ID: rs80237187
ClinVar ID: CV1183671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 52,954,588
GRCh38 5 53,658,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318051.2:c.350+12353T>C
NM_002495.4:c.424+134T>C
NG_008200.1:g.103124T>C
NC_000005.10:g.53658758T>C
More... 		06/23/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFS4
Accession:NM_002495
Location:INTRON

Gene Symbol:NDUFS4
Accession:NM_001318051
Location:INTRON

Gene Symbol:NDUFS4
Accession:NR_134473
Location:INTRON;NON-CODING

Gene Symbol:NDUFS4
Accession:NR_134475
Location:INTRON;NON-CODING

Gene Symbol:NDUFS4
Accession:NR_134474
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001555557 CLINVAR
dbSNP (RS) rs80237187 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFS4 CLINVAR
OMIM 602694 CLINVAR