RGD:28893811 Rat Genome Database

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Variant: RGD:28893811 -  Homo sapiens

RGD ID: 28893811
RS ID: rs575606938
ClinVar ID: CV876208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  ZNF276  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,804,865
GRCh38 16 89,738,457
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_110128.2:n.2034C>G
NR_110129.2:n.2128C>G
NR_110122.2:n.2211C>G
NM_000135.2:c.*144G>C
More... 		08/13/2021 3 prime utr variant uncertain significance Fanconi anemia, group A
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:FANCA
Accession:NM_000135
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: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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001121852 CLINVAR
dbSNP (RS) rs575606938 CLINVAR
MedGen C3469521 CLINVAR
NCBI Gene FANCA CLINVAR
  ZNF276 CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
  608460 CLINVAR