RGD:151785861 Rat Genome Database

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Variant: RGD:151785861 -  Homo sapiens

RGD ID: 151785861
RS ID: rs779236651
ClinVar ID: CV1344880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  ZNF276  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,805,031
GRCh38 16 89,738,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001113525.2:c.*377G>C
NM_152287.4:c.*377G>C
NM_001286167.3:c.*75C>G
NM_000135.4:c.4346C>G
More... 		08/26/2021 3 prime utr variant uncertain significance Fanconi pancytopenia; Fanconi's anemia; none provided
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


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:FANCA
Accession:NM_001286167
Location:3UTRS;EXON

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

Gene Symbol:FANCA
Accession:NM_000135
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 1449
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDC
DSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSM
FSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFF
SHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCF
PEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEH
TGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVR
AEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPE
VDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEAR
QPLSEEDVASLSWRPLHLPSADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGH
TPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFC
SHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTSNSTTD
LPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDM
YLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
QAAPDADLSQEPHLF*

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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001989566 CLINVAR
  RCV003478921 CLINVAR
dbSNP (RS) rs779236651 CLINVAR
MedGen C0015625 CLINVAR
  C3661900 CLINVAR
NCBI Gene FANCA CLINVAR
  ZNF276 CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
  608460 CLINVAR
SNOMED CT 30575002 CLINVAR