RGD:11599081 Rat Genome Database

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Variant: RGD:11599081 -  Homo sapiens

RGD ID: 11599081
RS ID: rs202196759
ClinVar ID: CV323504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZFYVE27  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 99,511,234
GRCh38 10 97,751,477
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001385903.1:c.654+15C>T
NM_001385904.1:c.654+15C>T
NM_001385892.1:c.672+15C>T
NM_001385875.1:c.876+15C>T
More... 		01/12/2018 intron variant benign|likely benign Spastic paraplegia 33, autosomal dominant
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ZFYVE27
Accession:NM_001385900
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385892
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001174121
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_017015645
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385878
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385880
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385916
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_011539253
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385890
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385877
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385891
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385875
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385883
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001002262
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385871
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385908
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001174122
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_011539252
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_017015644
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385915
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001174119
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385885
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385879
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385881
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385906
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385887
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_144588
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385899
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385918
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385919
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385898
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385882
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385903
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385895
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385886
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385889
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385894
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_047424567
Location:INTRON

Gene Symbol:ZFYVE27
Accession:XM_017015646
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385904
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385905
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385901
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001174120
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385888
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385911
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385893
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385896
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385876
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385902
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385897
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001385884
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NM_001002261
Location:INTRON

Gene Symbol:ZFYVE27
Accession:NR_169801
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169796
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169794
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:XR_945594
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169804
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169805
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169810
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169809
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169798
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169811
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169803
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169799
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169795
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169806
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169808
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169800
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169797
Location:INTRON;NON-CODING

Gene Symbol:ZFYVE27
Accession:NR_169802
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000262554 CLINVAR
  RCV002520657 CLINVAR
dbSNP (RS) rs202196759 CLINVAR
MedGen C0037772 CLINVAR
  C1853251 CLINVAR
NCBI Gene ZFYVE27 CLINVAR
OMIM 610243 CLINVAR
  610244 CLINVAR