RGD:405200699 Rat Genome Database

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Variant: RGD:405200699 -  Homo sapiens

RGD ID: 405200699
ClinVar ID: CV2918530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIZ  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 21,117,021
GRCh38 20 21,136,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276389.2:c.169-9185A>G
NM_001163022.3:c.6+4221A>G
NM_001163023.3:c.6+4221A>G
NM_001352435.2:c.6+4221A>G
More... 		07/29/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KIZ
Accession:NM_001352436
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:NM_018474
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001163022
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001163023
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001276389
Location:INTRON

Gene Symbol:KIZ
Accession:XM_011529299
Location:INTRON

Gene Symbol:KIZ
Accession:XM_011529296
Location:INTRON

Gene Symbol:KIZ
Accession:XM_011529297
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001352434
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001352435
Location:INTRON

Gene Symbol:KIZ
Accession:XM_047440292
Location:INTRON

Gene Symbol:KIZ
Accession:XR_937105
Location:INTRON;NON-CODING

Gene Symbol:KIZ
Accession:XR_001754334
Location:INTRON;NON-CODING

Gene Symbol:KIZ
Accession:XR_007067468
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003565915 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIZ CLINVAR
OMIM 615757 CLINVAR