RGD:156123180 Rat Genome Database

RGD:156123180 Rat Genome Database

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Variant: RGD:156123180 - Homo sapiens

RGD ID:

156123180

ClinVar ID:

CV2276158

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	7	108,205,071
GRCh38	7	108,564,627

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001287598.1:c.266C>T NM_001287599.1:c.266C>T NM_001287601.1:c.266C>T NM_182529.3:c.626C>T More...	05/26/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	THAP5
Accession:	NM_001130475
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRYCAAICCKNRRGRNNKDRKLSFYPFPLHDKERLEKWLKNMKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAV PTIFSLPEDNQGKDPSKKKSQKKNLEDEKEVCPKAKSEESFVLNETKKNIVNTDVPHQHPELLHSSSLVKPPAPKTGSIQ NNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSN SMEIKSAQENLFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQI EHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:	THAP5
Accession:	NM_182529
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	209

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAVPTIFSLPEDNQGKDPSKKKSQKKNLEDEKEVCPKAKSEESFV LNETKKNIVNTDVPHQHPELLHSSSLVKPPAPKTGSIQNNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNS TTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSMEIKSAQENLFLFSTINQTVEELNTNKESVIAIFVPAENSK PSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSL EALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:	THAP5
Accession:	NM_001287601
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	89

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSM EIKSAQENLFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEH SYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:	THAP5
Accession:	NM_001287599
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	89

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSM EIKSAQENLFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEH SYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:	THAP5
Accession:	NM_001287598
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	89

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSM EIKSAQENLFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEH SYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI*

Gene Symbol:	THAP5
Accession:	XM_047419934
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004141820	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	THAP5	CLINVAR
OMIM	612534	CLINVAR