RGD:405233171 Rat Genome Database

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Variant: RGD:405233171 -  Homo sapiens

RGD ID: 405233171
ClinVar ID: CV2965448
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIZ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 21,227,103
GRCh38 20 21,246,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001163023.3:c.1526-14G>A
NM_001352435.2:c.1562-14G>A
NM_001352436.2:c.1583-14G>A
NM_001163022.3:c.1616-14G>A
More... 		11/05/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
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_001352436
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 RCV003682593 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIZ CLINVAR
OMIM 615757 CLINVAR