RGD:152063298 Rat Genome Database

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Variant: RGD:152063298 -  Homo sapiens

RGD ID: 152063298
RS ID: rs749085160
ClinVar ID: CV1587763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  ZNF276  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,807,289
GRCh38 16 89,740,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152287.4:c.*2635G>C
NM_000135.4:c.3766-15C>G
NM_001286167.3:c.3766-15C>G
LRG_495:g.80777C>G
More... 		10/04/2022 3 prime utr 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: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: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_000135
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001018112
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001286167
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002090525 CLINVAR
dbSNP (RS) rs749085160 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCA CLINVAR
  ZNF276 CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
  608460 CLINVAR
SNOMED CT 30575002 CLINVAR