RGD:152118714 Rat Genome Database

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Variant: RGD:152118714 -  Homo sapiens

RGD ID: 152118714
RS ID: rs371272310
ClinVar ID: CV1575896
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,845,338
GRCh38 16 89,778,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000135.4:c.1776+13C>T
NM_001286167.3:c.1776+13C>T
LRG_495:g.42728C>T
NG_011706.1:g.42728C>T
More... 		10/21/2021 intron variant likely benign Fanconi anemia, group A; Fanconi pancytopenia; Fanconi's anemia
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   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002197755 CLINVAR
  RCV002494103 CLINVAR
dbSNP (RS) rs371272310 CLINVAR
MedGen C0015625 CLINVAR
  C3469521 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
SNOMED CT 30575002 CLINVAR