rs2101518689 Rat Genome Database

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Variant: rs2101518689 -  Homo sapiens

RGD ID: 152093970
RS ID: rs2101518689
ClinVar ID: CV1609224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS45  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 150,049,069
GRCh38 1 150,076,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001279354.2:c.330+7A>G
LRG_1170:g.14699A>G
NG_033910.1:g.14699A>G
NC_000001.11:g.150076991A>G
More... 		11/29/2022 intron variant likely benign Severe congenital neutropenia 5, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VPS45
Accession:NM_001279354
Location:INTRON

Gene Symbol:VPS45
Accession:XM_024452791
Location:INTRON

Gene Symbol:VPS45
Accession:NM_007259
Location:INTRON

Gene Symbol:VPS45
Accession:NM_001279353
Location:INTRON

Gene Symbol:VPS45
Accession:XR_921734
Location:INTRON;NON-CODING

Gene Symbol:VPS45
Accession:XR_007069452
Location:INTRON;NON-CODING

Gene Symbol:VPS45
Accession:NR_103998
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002172204 CLINVAR
dbSNP (RS) rs2101518689 CLINVAR
MedGen C3809031 CLINVAR
NCBI Gene VPS45 CLINVAR
OMIM 610035 CLINVAR
  615285 CLINVAR