RGD:15098520 Rat Genome Database

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Variant: RGD:15098520 -  Homo sapiens

RGD ID: 15098520
RS ID: rs761705192
ClinVar ID: CV688686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  ZNF276  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,806,478
GRCh38 16 89,740,070
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.89740070G>A
NM_000135.2:c.3858C>T
NP_000126.2:p.His1286=
NP_001273096.1:p.His1286=
More... 		03/10/2020 3 prime utr variant likely benign|uncertain significance Fanconi anemia, group A; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF276
Accession:NM_152287
Location:3UTRS;EXON

Gene Symbol:ZNF276
Accession:NM_001113525
Location:3UTRS;EXON

Gene Symbol:ZNF276
Accession:XM_005256324
Location:3UTRS;EXON

Gene Symbol:ZNF276
Accession:XM_047434901
Location:3UTRS;EXON

Gene Symbol:FANCA
Accession:NM_000135
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 1286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDC
DSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSM
FSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFF
SHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCF
PEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEH
TGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVR
AEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPE
VDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEAR
QPLSEEDVASLSWRPLHLPSADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGH
TPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFC
SHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTSNSTTD
LPKAFQVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDM
YLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
QAAPDADLSQEPHLF*

Gene Symbol:FANCA
Accession:NM_001286167
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 1286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDC
DSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSM
FSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFF
SHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCF
PEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEH
TGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVR
AEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPE
VDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEAR
QPLSEEDVASLSWRPLHLPSADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGH
TPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFC
SHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTSNSTTD
LPKAFQVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDM
YLKLVQLFVAGDTSTVSPPAGRSLELKGQAGQPRGTDNKSSSFSAAVNTSVPEKELLTRGRAAG*

Gene Symbol:ZNF276
Accession:NR_110128
Location:EXON;NON-CODING

Gene Symbol:ZNF276
Accession:NR_110122
Location:EXON;NON-CODING

Gene Symbol:ZNF276
Accession:NR_110126
Location:EXON;NON-CODING

Gene Symbol:ZNF276
Accession:NR_110129
Location:EXON;NON-CODING

Gene Symbol:FANCA
Accession:NM_001018112
Location:INTRON

Gene Symbol:ZNF276
Accession:XM_017023889
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001351830
Location:INTRON

Gene Symbol:ZNF276
Accession:XM_047434902
Location:INTRON

Gene Symbol:ZNF276
Accession:XM_047434903
Location:INTRON

Gene Symbol:ZNF276
Accession:XM_047434905
Location:INTRON

Gene Symbol:ZNF276
Accession:XR_933484
Location:INTRON;NON-CODING

Gene Symbol:ZNF276
Accession:XR_007064929
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000869716 CLINVAR
  RCV001274553 CLINVAR
  RCV003938292 CLINVAR
dbSNP (RS) rs761705192 CLINVAR
MedGen C0015625 CLINVAR
  C3469521 CLINVAR
NCBI Gene FANCA CLINVAR
  ZNF276 CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
  608460 CLINVAR
SNOMED CT 30575002 CLINVAR