RGD:13818198 Rat Genome Database

Variant: RGD:13818198 - Homo sapiens

RGD ID:

13818198

RS ID:

rs781198538

ClinVar ID:

CV558363

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

B3GALNT2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	235,643,393
GRCh38	1	235,480,077

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
NG_033219.2:g.29405G>A NC_000001.11:g.235480077C>T NC_000001.10:g.235643393C>T NP_689703.1:p.Val210Met More...	05/07/2018	missense variant	uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11; none provided; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED

Disease Annotations Click to see Annotation Detail View

congenital muscular dystrophy-dystroglycanopathy type A11 (IAGP)

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	B3GALNT2
Accession:	NM_152490
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	210

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHK VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE LTELWKLKERCGDPCRCQAR*

Gene Symbol:	B3GALNT2
Accession:	XM_006711749
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	210

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHK VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE LTELWKLKERCPDSKLAREDCLQILQMFSPSVTFGNSSLSALTETWCHLRHDPQDTSHVSTRPCSARLGAQYHTANQFLG LDHSLHRRGGKQYFFPALGQTVTTFL*

Gene Symbol:	B3GALNT2
Accession:	XM_017000394
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG VQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI QEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDC YIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGE DVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR*

Gene Symbol:	B3GALNT2
Accession:	XM_047447002
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG VQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI QGLWKQRASICC*

Gene Symbol:	B3GALNT2
Accession:	XM_047447005
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	210

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHK VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQGLWKQRASICC*

Gene Symbol:	B3GALNT2
Accession:	XM_047447004
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG VQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITDCGNNELQFVAEDR*

Gene Symbol:	B3GALNT2
Accession:	NM_001277155
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG VQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI QGKFAS*

Gene Symbol:	B3GALNT2
Accession:	XM_047447003
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG VQVNKLWYKPMEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITKVMLSYTTFILALKDLLII*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000693548	CLINVAR
	RCV001766491	CLINVAR
	RCV002532237	CLINVAR
dbSNP (RS)	rs781198538	CLINVAR
MedGen	C0950123	CLINVAR
	C3554638	CLINVAR
	C3661900	CLINVAR
NCBI Gene	B3GALNT2	CLINVAR
OMIM	610194	CLINVAR
	615181	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:13818198 - Homo sapiens

Imported Disease Annotations - ClinVar