RGD:401771907 Rat Genome Database

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Variant: RGD:401771907 -  Homo sapiens

RGD ID: 401771907
ClinVar ID: CV2722987
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THAP5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 108,205,432
GRCh38 7 108,564,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001287598.1:c.-96G>A
NM_001287599.1:c.-96G>A
NM_001287601.1:c.-96G>A
NM_182529.3:c.265G>A
More... 		06/05/2023 5 prime utr variant uncertain significance AllHighlyPenetrant

Gene Symbol:THAP5
Accession:NM_001287601
Location:5UTRS;EXON

Gene Symbol:THAP5
Accession:NM_001287599
Location:5UTRS;EXON

Gene Symbol:THAP5
Accession:NM_001287598
Location:5UTRS;EXON

Gene Symbol:THAP5
Accession:NM_001130475
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRYCAAICCKNRRGRNNKDRKLSFYPFPLHDKERLEKWLKNMKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAV
PTIFSLPEDNQGKDPSKKKSQKKNLEDEKEVCPKAKSEESFVLNETKKNIINTDVPHQHPELLHSSSLVKPPAPKTGSIQ
NNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSN
SMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQI
EHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:THAP5
Accession:NM_182529
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAVPTIFSLPEDNQGKDPSKKKSQKKNLEDEKEVCPKAKSEESFV
LNETKKNIINTDVPHQHPELLHSSSLVKPPAPKTGSIQNNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNS
TTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSK
PSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSL
EALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:THAP5
Accession:XM_047419934
Location:INTRON

Gene Symbol:THAP5
Accession:XR_007059987
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004327161 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene THAP5 CLINVAR
OMIM 612534 CLINVAR