RGD:10405527 Rat Genome Database

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Variant: RGD:10405527 -  Homo sapiens

RGD ID: 10405527
RS ID: rs863224607
ClinVar ID: CV212679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AOPEP  FANCC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 97,879,621
GRCh38 9 95,117,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_497t1:c.1048A>G
LRG_497:g.205371A>G
NG_011707.1:g.205371A>G
NC_000009.12:g.95117339T>C
More... 		09/19/2022 missense variant likely benign|uncertain significance AllHighlyPenetrant; Cancer predisposition; FACC; Fanconi anemia, group C; Fanconi pancytopenia; FANCONI PANCYTOPENIA, TYPE 3; Fanconi's anemia; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:NM_001243744
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422948
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_024447451
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422952
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_005251802
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDG
ALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSC
GGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDL
QTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLA
RELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422953
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:NM_001243743
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422949
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_011518365
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422950
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_011518366
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMAW*

Gene Symbol:FANCC
Accession:XM_047422958
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:XM_047422956
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGD
LQPCGQRRSPVPTEVARDETLPAHSPAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422951
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_006717001
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422955
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMAW*

Gene Symbol:FANCC
Accession:XM_047422954
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHS
PAKRRPFFPKVI*

Gene Symbol:FANCC
Accession:XM_047422957
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:NM_000136
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_006717002
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLALVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVSSWHGALTAW*

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386072
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423985
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193329
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386068
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386067
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_032823
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519121
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015232
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386062
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015234
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015236
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386071
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519127
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519134
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015231
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193331
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423988
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423986
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386066
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386063
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386070
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423982
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386076
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423984
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423978
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519130
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015237
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386074
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423980
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423981
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:NM_001386069
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519122
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423987
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386073
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519123
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423979
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386075
Location:INTRON

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

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

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

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

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

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

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

Gene Symbol:AOPEP
Accession:XR_929855
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_007061364
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:12750283   PMID:15277238   PMID:25741868   PMID:26467025   PMID:28492532   PMID:32546565   PMID:35739269  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195408 CLINVAR
  RCV001017074 CLINVAR
  RCV001292900 CLINVAR
  RCV001546836 CLINVAR
  RCV002282033 CLINVAR
dbSNP (RS) rs863224607 CLINVAR
MedGen C0015625 CLINVAR
  C0027672 CLINVAR
  C3468041 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C9orf3 CLINVAR
  FANCC CLINVAR
OMIM 227645 CLINVAR
  227650 CLINVAR
  613899 CLINVAR
  619600 CLINVAR
SNOMED CT 30575002 CLINVAR
  699346009 CLINVAR