RGD:15163650 Rat Genome Database

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Variant: RGD:15163650 -  Homo sapiens

RGD ID: 15163650
RS ID: rs932430
ClinVar ID: CV778654
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMM50  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 44,368,741
GRCh38 22 43,972,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015380.4:c.430-10C>T
NM_015380.5:c.430-10C>T
NG_029057.2:g.22481C>T
NC_000022.11:g.43972861C>T
More... 		02/11/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SAMM50
Accession:NM_015380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948138 CLINVAR
dbSNP (RS) rs932430 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SAMM50 CLINVAR
OMIM 612058 CLINVAR