rs1322075070 Rat Genome Database

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Variant: rs1322075070 -  Homo sapiens

RGD ID: 151797633
RS ID: rs1322075070
ClinVar ID: CV1377127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NGLY1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 25,792,584
GRCh38 3 25,751,093
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145294.2:c.532+5T>C
NM_001145293.2:c.658+5T>C
NM_001145295.2:c.658+5T>C
NM_018297.4:c.658+5T>C
More... 		12/02/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NGLY1
Accession:XM_047448557
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_011533944
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_005265317
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_047448561
Location:INTRON

Gene Symbol:NGLY1
Accession:NM_018297
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_047448560
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_017006839
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_005265316
Location:INTRON

Gene Symbol:NGLY1
Accession:NM_001145295
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_047448556
Location:INTRON

Gene Symbol:NGLY1
Accession:NM_001145293
Location:INTRON

Gene Symbol:NGLY1
Accession:NM_001145294
Location:INTRON

Gene Symbol:NGLY1
Accession:XM_047448558
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001917412 CLINVAR
dbSNP (RS) rs1322075070 CLINVAR
MedGen C3808991 CLINVAR
NCBI Gene NGLY1 CLINVAR
OMIM 610661 CLINVAR