RGD:151236189 Rat Genome Database

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Variant: RGD:151236189 -  Homo sapiens

RGD ID: 151236189
RS ID: rs367878826
ClinVar ID: CV1319634
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MOV10L1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,547,278
GRCh38 22 50,108,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164105.2:c.683+5G>A
NM_001164104.2:c.743+5G>A
NM_018995.3:c.743+5G>A
NC_000022.11:g.50108849G>A
More... 		12/20/2021 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View
azoospermia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Azoospermia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MOV10L1
Accession:XM_011530701
Location:INTRON

Gene Symbol:MOV10L1
Accession:NM_018995
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_017028837
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530698
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_017028835
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_017028836
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530696
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_047441414
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_047441415
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530699
Location:INTRON

Gene Symbol:MOV10L1
Accession:NM_001164104
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530697
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_017028834
Location:INTRON

Gene Symbol:MOV10L1
Accession:NM_001164105
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_047441413
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530704
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_017028833
Location:INTRON

Gene Symbol:MOV10L1
Accession:NM_001164106
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_005261923
Location:INTRON

Gene Symbol:MOV10L1
Accession:XM_011530700
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001797570 CLINVAR
dbSNP (RS) rs367878826 CLINVAR
MedGen C0004509 CLINVAR
NCBI Gene MOV10L1 CLINVAR
OMIM 605794 CLINVAR
SNOMED CT 425558002 CLINVAR