RGD:401920064 Rat Genome Database

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Variant: RGD:401920064 -  Homo sapiens

RGD ID: 401920064
ClinVar ID: CV2824717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITSN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 35,144,347
GRCh38 21 33,772,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001132.2:c.1043-18T>C
NM_001331008.2:c.1043-18T>C
NM_001331009.2:c.1043-18T>C
NM_001331010.2:c.1043-18T>C
More... 		04/01/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ITSN1
Accession:XM_011529693
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028430
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440951
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440943
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028440
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028441
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028431
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028434
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440946
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028435
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_003024
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028438
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440948
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_011529692
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001331010
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001331009
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440945
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001331011
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440950
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028432
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028428
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028433
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028429
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001331008
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440944
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001331012
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440949
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_047440947
Location:INTRON

Gene Symbol:ITSN1
Accession:NM_001001132
Location:INTRON

Gene Symbol:ITSN1
Accession:XM_017028436
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003431479 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ITSN1 CLINVAR
OMIM 602442 CLINVAR