RGD:153303535 Rat Genome Database

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Variant: RGD:153303535 -  Homo sapiens

RGD ID: 153303535
RS ID: rs149873248
ClinVar ID: CV1686325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  F11-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 187,209,617
GRCh38 4 186,288,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008051.1:g.27500G>A
NC_000004.12:g.186288463G>A
NC_000004.11:g.187209617G>A
NR_033900.1:n.1031C>T
More... 		04/12/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:F11
Accession:XM_005262821
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 577
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL
CTNAVRCQFFTYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEW
PWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGY
DIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMI
CAGYREGGKDACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449811
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 560
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ
ASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLC
GGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQ
RPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSE
GPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449813
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 528
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ
ASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLC
GGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDKI
QNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVY
TNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449812
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 544
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL
CTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWP
WQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD
IALLKLETTVNYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEVWHLVGI
TSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449815
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKC
YLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWI
LTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGD
RNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEV
WHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449817
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 438
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKC
YLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWI
LTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDKIQNTLQKAKIP
LVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWI
LEKTQAV*

Gene Symbol:F11
Accession:NM_000128
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 576
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL
CTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWP
WQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD
IALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMIC
AGYREGGKDACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_005262822
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 545
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL
CTNAVRCQFFTYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEW
PWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGY
DIALLKLETTVNYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEVWHLVG
ITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_005262823
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 487
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF
TYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTS
PTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETT
VNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKD
ACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449814
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 486
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF
TYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSP
TQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTV
NYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDA
CKGDSEGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_047449816
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF
TYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSP
TQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTV
NYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSEGPLSCKHNEVWHLVGITSWGEGCAQR
ERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11
Accession:XM_006714137
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 561
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD
SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE
HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ
ASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHL
CGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDS
QRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDS
EGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:F11-AS1
Accession:NR_033900
Location:EXON;NON-CODING

Gene Symbol:F11
Accession:XM_017007885
Location:INTRON

Gene Symbol:F11
Accession:XM_017007886
Location:INTRON

Gene Symbol:F11
Accession:NM_001354804
Location:INTRON

Gene Symbol:F11
Accession:XM_017007884
Location:INTRON

Gene Symbol:F11-AS1
Accession:NR_033901
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002261758 CLINVAR
dbSNP (RS) rs149873248 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene F11 CLINVAR
  F11-AS1 CLINVAR
OMIM 264900 CLINVAR