RGD:155720244 Rat Genome Database

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Variant: RGD:155720244 -  Homo sapiens

RGD ID: 155720244
ClinVar ID: CV1835755
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AOPEP  FANCC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 97,879,644
GRCh38 9 95,117,362
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001230672.1:p.Pro342Leu
NP_001230673.1:p.Pro342Leu
LRG_497t1:c.1025C>T
NM_000136.3:c.1025C>T
More... 		11/10/2021 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:XM_047422951
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422950
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422957
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:XM_011518366
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMAW*

Gene Symbol:FANCC
Accession:XM_047422948
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:NM_001243743
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422952
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422955
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMAW*

Gene Symbol:FANCC
Accession:XM_006717001
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_024447451
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:NM_001243744
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422958
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:NM_000136
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422954
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422949
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_006717002
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVSSWHGALTAW*

Gene Symbol:FANCC
Accession:XM_005251802
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDG
ALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSC
GGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDL
QTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLA
RELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422956
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGD
LQPCGQRRSPVPTEVARDETLPAHSPAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422953
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_011518365
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFHYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:AOPEP
Accession:NM_001386068
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519127
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423978
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519121
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386062
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519134
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386074
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386073
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386070
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386061
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423983
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519132
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015234
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423980
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423979
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193331
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423987
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386071
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423988
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423982
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015231
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386063
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193329
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519123
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386067
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386076
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386072
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386075
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519122
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015237
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015236
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015232
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423985
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519130
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423984
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423981
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423986
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386066
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386069
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_032823
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:AOPEP
Accession:XR_929857
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169864
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929853
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169862
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169863
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061363
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061365
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061364
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169867
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169866
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929854
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929855
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169865
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002380756 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene AOPEP CLINVAR
  FANCC CLINVAR
OMIM 613899 CLINVAR
  619600 CLINVAR
SNOMED CT 699346009 CLINVAR