RGD:156257979 Rat Genome Database

Variant: RGD:156257979 - Homo sapiens

RGD ID:

156257979

ClinVar ID:

CV2264920

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SOD2 WTAP

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	160,169,318
GRCh38	6	159,748,286

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001322817.2:c.-197+252T>A NM_001270531.2:c.369A>T NM_001270532.2:c.369A>T NM_001270533.2:c.369A>T More...	04/22/2022	intron variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SOD2
Accession:	NM_001322817
Location:	5UTRS;INTRON

Gene Symbol:	WTAP
Accession:	NM_004906
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ QQQSQASAPSTSRTTASEPVEQSEATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:	WTAP
Accession:	NM_152858
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDR*

Gene Symbol:	WTAP
Accession:	NM_001270533
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDRGLMASDYSE EVATSEKFPF*

Gene Symbol:	WTAP
Accession:	XM_047419578
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ QQQSQASAPSTSRTTASEPVEQSEATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:	WTAP
Accession:	XM_017011516
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRGKASVSKFSKLTGFKMTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLK QQQQESARRENILVMRLATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELS AWKFTPDRGLMASDYSEEVATSEKFPF*

Gene Symbol:	WTAP
Accession:	XM_017011515
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRLATKEQEMQECTTQIQYLKQVQQPSVAQ LRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAKCRMLIQENQELGRQLSQGRIAQLEAEL ALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQQQQSQASAPSTSRTTASEPVEQSEATS KDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEERTGRGGSGYVNQLSAGYESVDSPTGSEN SLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:	WTAP
Accession:	NM_152857
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDR*

Gene Symbol:	WTAP
Accession:	NM_001270531
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ QQQSQASAPSTSRTTASEPVEQSEATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:	WTAP
Accession:	NM_001270532
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELSAWKFTPDRGLMASDYSE EVATSEKFPF*

Gene Symbol:	WTAP
Accession:	XM_017011514
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRGKASVSKFSKLTGFKMTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLK QQQQESARRENILVMRLATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLNMKGELEQTKDKLEQAQNELS AWKFTPDSQTGKKLMAKCRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTIL VLQQQLKETRQQLAQYQQQQSQASAPSTSRTTASEPVEQSEATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDF PSSPGNGNKSSNSSEERTGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQN GLDSSVNVQGSVL*

Gene Symbol:	SOD2
Accession:	NM_001322815
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_000636
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001322819
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001322816
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001322814
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001024465
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001024466
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001322820
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002831526	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	SOD2	CLINVAR
	WTAP	CLINVAR
OMIM	147460	CLINVAR
	605442	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156257979 - Homo sapiens

Imported Disease Annotations - ClinVar