RGD:405675350 Rat Genome Database

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Variant: RGD:405675350 -  Homo sapiens

RGD ID: 405675350
ClinVar ID: CV3354888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127886579  ZNHIT3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 34,842,616
GRCh38 17 36,486,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004773.2:c.73T>G
NP_001268361.1:p.Cys25Gly
NP_001268362.1:p.Cys25Gly
NM_001281432.2:c.73T>G
More... 		12/16/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNHIT3
Accession:NM_001281432
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPAGRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNS
DEEEDRVSLQNLKNLDGLSSCHPGWSAAAQSRLTATSPSQIQAILMPQPPEQLGLQAPATTPNQFLYF*

Gene Symbol:ZNHIT3
Accession:NM_001281433
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPAGRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKVMRKKTEFLCRI
*

Gene Symbol:ZNHIT3
Accession:NM_004773
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPAGRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNS
DEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES*

Gene Symbol:ZNHIT3
Accession:NM_001281434
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPAGRVPYCSVVCFRKHKGESATLRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLF
VEFADCCLGIVEPSQNEES*

Gene Symbol:ZNHIT3
Accession:NR_104010
Location:EXON;NON-CODING

Gene Symbol:ZNHIT3
Accession:NR_104011
Location:EXON;NON-CODING

Gene Symbol:ZNHIT3
Accession:NR_104009
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004487515 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNHIT3 CLINVAR
OMIM 604500 CLINVAR