RGD:156370256 Rat Genome Database

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Variant: RGD:156370256 -  Homo sapiens

RGD ID: 156370256
ClinVar ID: CV2190721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AOPEP  FANCC  LOC127815344  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 97,864,064
GRCh38 9 95,101,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_497t1:c.1602T>C
NM_000136.3:c.1602T>C
NM_000136.2:c.1602T>C
LRG_497p1:p.Asn534=
More... 		05/08/2022 synonymous variant likely benign Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:XM_006717001
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422951
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:NM_000136
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422948
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422958
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:XM_011518365
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422957
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKI
SLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEII
ATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFE
SWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAG
QGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLK
ELRTQV*

Gene Symbol:FANCC
Accession:XM_047422950
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_005251802
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDG
ALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSC
GGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDL
QTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLA
RELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422952
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVD
EMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLA
MSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKR
LGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:NM_001243743
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_024447451
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:FANCC
Accession:XM_047422949
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFI
LAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASE
LRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQ
CFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHF
GGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWKRLGIESPRSEKLARELLKELRTQV*

Gene Symbol:AOPEP
Accession:NM_001386075
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423988
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193329
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386068
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423984
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_032823
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243744
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386066
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717002
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386070
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519121
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386074
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519127
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518366
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386061
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386062
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386076
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423979
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423986
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423983
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386063
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015237
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423982
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015232
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423987
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386069
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423981
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519130
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386072
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519123
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386073
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422956
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386071
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423978
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423985
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519132
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519122
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015236
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015234
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423980
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519134
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015231
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386067
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193331
Location:INTRON

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

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

Gene Symbol:AOPEP
Accession:NR_169864
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_169865
Location:INTRON;NON-CODING

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003066231 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene AOPEP CLINVAR
  FANCC CLINVAR
OMIM 227650 CLINVAR
  613899 CLINVAR
  619600 CLINVAR
SNOMED CT 30575002 CLINVAR