RGD:25327290 Rat Genome Database

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Variant: RGD:25327290 -  Homo sapiens

RGD ID: 25327290
RS ID: rs1590065940
ClinVar ID: CV809834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127819051  SUFU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 104,356,965
GRCh38 10 102,597,208
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_521t1:c.825G>A
NM_001178133.2:c.825G>A
NM_016169.4:c.825G>A
LRG_521:g.98247G>A
More...
08/21/2019 nonsense pathogenic Basal cell nevus syndrome; Cancer predisposition; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medulloblastoma; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Neoplastic Syndromes, Hereditary; Tumor predisposition
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: W to * (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH*

Gene Symbol:SUFU
Accession:NM_001178133
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQL*

Gene Symbol:SUFU
Accession:XM_011539863
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPA
ELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQG
ILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQP
RRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQES
GALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVIS
QRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539858
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE
EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539860
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINS
KPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSI
TGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEE
FVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_011539864
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQL*

Gene Symbol:SUFU
Accession:XM_011539861
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVF
DSPLH*

Gene Symbol:SUFU
Accession:XM_047425335
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSP
SANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEIN
SKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKS
ITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTE
EFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425336
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN
LSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD
SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYA
AHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPRGNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYS
WPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425337
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQQERVDKGIETDGSN
LSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKD
SLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYA
AHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425338
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWGLWKRTCPQSLAGPKTEILVETVQDHIHAGIVLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHE
FTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQ
PVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNL
SGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDS
LESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAA
HGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Gene Symbol:SUFU
Accession:XM_047425339
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSE
NTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGP
WLITDMRRGETIFEIDPHLQQERVDKGIETDGSNLSGVSAKCA*DDLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRET
LRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLH
GRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQRPPSCELPSRPVCSPSCVHSFLVISQRGNFCSWQLTIPR
GNLILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH*

Variant Samples
Additional References at PubMed
PMID:22508808   PMID:25403219   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001027333 CLINVAR
  RCV001238662 CLINVAR
dbSNP (RS) rs1590065940 CLINVAR
MedGen C0004779 CLINVAR
  C0027672 CLINVAR
NCBI Gene SUFU CLINVAR
OMIM 109400 CLINVAR
  155255 CLINVAR
  607035 CLINVAR
SNOMED CT 69408002 CLINVAR
  699346009 CLINVAR