RGD:151356237 Rat Genome Database

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Variant: RGD:151356237 -  Homo sapiens

RGD ID: 151356237
RS ID: rs772594350
ClinVar ID: CV1329001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCE  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 35,423,648
GRCh38 6 35,455,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_498t1:c.373C>G
NM_021922.3:c.373C>G
LRG_498:g.8511C>G
NG_011708.1:g.8511C>G
More... 		06/16/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FANCE
Accession:NM_021922
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCS
ALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKG
LAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:XM_005248887
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCS
ALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQITETQRLGLAMALEPNTTF
LRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:XM_005248885
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVL
QAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSM
AYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:XM_005248886
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEMDLLCAQLQLPQLSDLGLLR
LCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELLCCL
VKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMTKYQAN
ITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCS
ALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGSLRPRGWAWLWP*

Gene Symbol:FANCE
Accession:XM_011514343
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRL
KSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMA
VKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSD
LGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTE
LLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMT
KYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:XM_047418300
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEMDLLCAQLQLPQLSDLGLLR
LCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELLCCL
VKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:XM_047418303
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEMDLLCAQLQLPQLSDLGLLR
LCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELLCCL
VKMESLEPDAQVLMLGSLRPRGWAWLWP*

Gene Symbol:FANCE
Accession:XM_047418301
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCS
ALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGWR*

Gene Symbol:FANCE
Accession:XM_047418302
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRL
KSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMA
VKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSD
LGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTE
LLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMT
KYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP*

Gene Symbol:FANCE
Accession:NM_001410876
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGR
LELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDVAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERC
QRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECS
PSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCS
ALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGSLRPRGWAWLWP*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001822590 CLINVAR
dbSNP (RS) rs772594350 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FANCE CLINVAR
OMIM 613976 CLINVAR