RGD:150332848 Rat Genome Database

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Variant: RGD:150332848 -  Homo sapiens

RGD ID: 150332848
RS ID: rs11076627
ClinVar ID: CV1170023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,874,559
GRCh38 16 89,808,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011706.1:g.13507T>G
NC_000016.10:g.89808151A>C
NM_001018112.3:c.596+143T>G
NM_001286167.3:c.596+143T>G
More... 		07/08/2021 intron variant benign Fanconi anemia, group A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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:FANCA
Accession:NM_001351830
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001537726 CLINVAR
  RCV001692460 CLINVAR
dbSNP (RS) rs11076627 CLINVAR
MedGen C3469521 CLINVAR
  C3661900 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR