RGD:126751462 Rat Genome Database

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Variant: RGD:126751462 -  Homo sapiens

RGD ID: 126751462
RS ID: rs2080123764
ClinVar ID: CV999880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEXMIF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 73,965,404
GRCh38 X 74,745,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001008537.3:c.79+3A>G
NG_027726.1:g.184884A>G
NC_000023.11:g.74745569T>C
NC_000023.10:g.73965404T>C
08/31/2020 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NEXMIF
Accession:NM_001008537
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001307042 CLINVAR
dbSNP (RS) rs2080123764 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene NEXMIF CLINVAR
OMIM 300524 CLINVAR