RGD:243049567 Rat Genome Database

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Variant: RGD:243049567 -  Homo sapiens

RGD ID: 243049567
ClinVar ID: CV2416850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCL  VRK2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 58,386,932
GRCh38 2 58,159,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374615.1:c.1141A>T
NC_000002.11:g.58386932T>A
NR_049781.1:n.1793T>A
NR_036441.1:n.1953T>A
More... 		08/30/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:VRK2
Accession:NM_001130480
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001130482
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001130483
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_006296
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001130481
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_005264540
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_005264395
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001288837
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001288838
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001288839
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:NM_001288836
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_006712091
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_006712090
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_011532940
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_011532942
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_011532939
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_011532945
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_011532944
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_011533092
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_017004416
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_047444853
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:XM_047444855
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_047445748
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_047445747
Location:3UTRS;EXON

Gene Symbol:VRK2
Accession:XM_047445745
Location:3UTRS;EXON

Gene Symbol:FANCL
Accession:NM_018062
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDL
MSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPA
ESPDYFVDFPVPFCASWTPQSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEV
DPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQLDGTIP
DQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:NM_001114636
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDL
MSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPA
ESPDYFVDFPVPFCASWTPQVNSPQSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVS
INIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQL
DGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:NM_001374615
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDL
MSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPA
ESPDYFVDFPVPFCASWTPQVTDQAKMDVKIAVLPSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATA
RRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEKSDFTM
DCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:XM_047444854
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRI
ALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEKSDFTMDCG
ICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:XM_047444856
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDSSRLRLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQVNSPQSSLISIYSQFLA
AIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIH
LWDPENSVLQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSF
NIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:NM_001410792
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDL
MSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPA
ESPDYFVDFPVPFCASWTPQVNSPQVTDQAKMDVKIAVLPSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPP
RSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH*

Gene Symbol:FANCL
Accession:NR_156742
Location:EXON;NON-CODING

Gene Symbol:FANCL
Accession:NR_164659
Location:EXON;NON-CODING

Gene Symbol:FANCL
Accession:XM_047444852
Location:INTRON

Gene Symbol:FANCL
Accession:XR_007077528
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003151522 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FANCL CLINVAR
  VRK2 CLINVAR
OMIM 602169 CLINVAR
  608111 CLINVAR