RGD:26896914 Rat Genome Database

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Variant: RGD:26896914 -  Homo sapiens

RGD ID: 26896914
RS ID: rs2063698088
ClinVar ID: CV836596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUFU  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 104,377,141
GRCh38 10 102,617,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_521:g.118423G>C
NG_021338.1:g.118423G>C
NC_000010.11:g.102617384G>C
NC_000010.10:g.104377141G>C
More...
03/08/2019 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SUFU
Accession:NM_016169
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 418
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH*

Gene Symbol:SUFU
Accession:NM_001178133
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 418
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQL*

Gene Symbol:SUFU
Accession:XM_011539863
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPA
ELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQG
ILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQP
RRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQES
GALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVIS
QRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539858
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE
EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539860
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 418
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEE
FVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539864
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQL*

Gene Symbol:SUFU
Accession:XM_011539861
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVF
DSPLH*

Gene Symbol:SUFU
Accession:XM_047425335
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE
EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425336
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN
LSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD
SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFPTEEHPYA
AHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYS
WPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425337
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN
LSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD
SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFPTEEHPYA
AHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425338
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNL
SGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDS
LESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFPTEEHPYAA
HGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425339
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSE
NTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGP
WLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRET
LRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLH
GRHFTYKSITGDMAITFVSTGVEGAFPTEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPR
GNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070064 CLINVAR
dbSNP (RS) rs2063698088 CLINVAR
MedGen C0004779 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 109400 CLINVAR
  155255 CLINVAR
  607035 CLINVAR
SNOMED CT 69408002 CLINVAR