RGD:13812735 Rat Genome Database

Variant: RGD:13812735 - Homo sapiens

RGD ID:

13812735

RS ID:

rs1554852823

ClinVar ID:

CV563554

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127819051 SUFU

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	104,357,042
GRCh38	10	102,597,285

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
LRG_521t1:c.902C>G LRG_521:g.98324C>G NG_021338.1:g.98324C>G NC_000010.11:g.102597285C>G More...	07/02/2018	missense variant	uncertain significance	Basal cell nevus syndrome; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Medulloblastoma; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Disease Annotations Click to see Annotation Detail View

nevoid basal cell carcinoma syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Medulloblastoma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SUFU
Accession:	XM_047425339
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSE NTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGP WLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRET LRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLH GRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPR GNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_047425336
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN LSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYA AHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYS WPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_011539863
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPA ELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQG ILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQP RRLCGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQES GALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVIS QRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_047425335
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEIN SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_047425337
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN LSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYA AHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	NM_001178133
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINS KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQL*

Gene Symbol:	SUFU
Accession:	XM_011539858
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEIN SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_011539864
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEIN SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQL*

Gene Symbol:	SUFU
Accession:	NM_016169
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINS KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD SPLH*

Gene Symbol:	SUFU
Accession:	XM_011539860
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINS KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEE FVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:	SUFU
Accession:	XM_011539861
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEIN SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVF DSPLH*

Gene Symbol:	SUFU
Accession:	XM_047425338
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNL SGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLCGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDS LESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAA HGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000689651	CLINVAR
dbSNP (RS)	rs1554852823	CLINVAR
MedGen	C0004779	CLINVAR
NCBI Gene	SUFU	CLINVAR
OMIM	155255	CLINVAR
	607035	CLINVAR
SNOMED CT	69408002	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)

Variant: RGD:13812735 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13812735 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar