RGD:127311860 Rat Genome Database

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Variant: RGD:127311860 -  Homo sapiens

RGD ID: 127311860
RS ID: rs9899029
ClinVar ID: CV1158121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887891  NHERF1  SLC9A3R1-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 72,745,440
GRCh38 17 74,749,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004252.5:c.441+14A>G
NG_013022.1:g.5678A>G
NC_000017.11:g.74749301A>G
NC_000017.10:g.72745440A>G
 12/15/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC9A3R1-AS1
Accession:NR_187307
Location:EXON;NON-CODING

Gene Symbol:NHERF1
Accession:NM_004252
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001518768 CLINVAR
dbSNP (RS) rs9899029 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC9A3R1 CLINVAR
  SLC9A3R1-AS1 CLINVAR
OMIM 604990 CLINVAR