RGD:405162537 Rat Genome Database

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Variant: RGD:405162537 -  Homo sapiens

RGD ID: 405162537
ClinVar ID: CV2960416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 16,228,080
GRCh38 4 16,226,457
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153365.3:c.1A>G
NG_171743.1:g.44T>C
NG_033259.1:g.5082A>G
NG_171742.1:g.534T>C
More... 		07/03/2023 initiator_codon_variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TAPT1
Accession:XM_011513816
Location:5UTRS;EXON

Gene Symbol:TAPT1
Accession:XM_047449754
Location:5UTRS;INTRON

Gene Symbol:TAPT1
Accession:NM_153365
Location:EXON

Gene Symbol:TAPT1
Accession:XM_011513812
Location:EXON

Gene Symbol:TAPT1
Accession:XM_047449759
Location:EXON

Gene Symbol:TAPT1
Accession:XM_047449758
Location:EXON

Gene Symbol:TAPT1
Accession:XM_011513817
Location:INTRON

Gene Symbol:TAPT1
Accession:XM_047449755
Location:INTRON

Gene Symbol:TAPT1
Accession:XM_047449756
Location:INTRON

Gene Symbol:TAPT1
Accession:XM_047449757
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003674787 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TAPT1 CLINVAR
OMIM 612758 CLINVAR