RGD:597793035 Rat Genome Database

RGD:597793035 Rat Genome Database

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Variant: RGD:597793035 - Homo sapiens

RGD ID:

597793035

ClinVar ID:

CV3643739

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BZW2

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	7	16,714,076
GRCh38	7	16,674,451

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001362718.2:c.-349C>T NM_001362719.2:c.-349C>T NM_001159767.2:c.98C>T NM_001362717.2:c.98C>T More...	11/08/2024	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	BZW2
Accession:	NM_001362718
Location:	5UTRS;EXON

Gene Symbol:	BZW2
Accession:	NM_001362719
Location:	5UTRS;EXON

Gene Symbol:	BZW2
Accession:	NM_014038
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDILVQGLNEAGDDLEAVAKFLDSTGSRLDYRRYADTLFDILVAGSMLAP GGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIRRYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLG NGTLPATILTSLFTDSLVKEGIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTCIMNAVEWNKKEELVAEQALK HLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAFQKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKK FVEWLQNAEEESESEGEEN*

Gene Symbol:	BZW2
Accession:	NM_001159767
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDILVQGLNEAGDDLEAVAKFLDSTGSRLDYRRYADTLFDILVAGSMLAP GGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIRRYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLG NGTLPATILTSLFTDSLVKEGIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTCIMNAVEWNKKEELVAEQALK HLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAFQKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKK FVEWLQNAEEESESEGEEN*

Gene Symbol:	BZW2
Accession:	XM_006715708
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDILVQGLNEAGDDLEAVAKFLDSTGSRLDYRRYADTLFDILVAGSMLAP GGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIRRYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLG NGTLPATILTSLFTDSLVKEGIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTCIMNAVEWNKKEELVAEQALK HLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAFQKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKK FVEWLQNAEEESESEGEEN*

Gene Symbol:	BZW2
Accession:	XM_006715707
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDILVQGLNEAGDDLEAVAKFLDSTGSRLDYRRYADTLFDILVAGSMLAP GGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIRRYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLG NGTLPATILTSLFTDSLVKEGIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTCIMNAVEWNKKEELVAEQALK HLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAFQKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKK FVEWLQNAEEESESEGEEN*

Gene Symbol:	BZW2
Accession:	NM_001362717
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNKHQKPVLTGQRFKTRKRDEKEKFEPTVFRDILVQGLNEAGDDLEAVAKFLDSTGSRLDYRRYADTLFDILVAGSMLAP GGTRIDDGDKTKMTNHCVFSANEDHETIRNYAQVFNKLIRRYKYLEKAFEDEMKKLLLFLKAFSETEQTKLAMLSGILLG NGTLPATILTSLFTDSLVKEGIAASFAVKLFKAWMAEKDANSVTSSLRKANLDKRLLELFPVNRQSVDHFAKYFTDAGLK ELSDFLRVQQSLGTRKELQKELQERLSQECPIKEVVLYVKEEMKRNDLPETAVIGLLWTCIMNAVEWNKKEELVAEQALK HLKQYAPLLAVFSSQGQSELILLQKVQEYCYDNIHFMKAFQKIVVLFYKADVLSEEAILKWYKEAHVAKGKSVFLDQMKK FVEWLQNAEEESESEGEEN*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004902845	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	BZW2	CLINVAR
OMIM	619275	CLINVAR