RGD:28896451 Rat Genome Database

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Variant: RGD:28896451 -  Homo sapiens

RGD ID: 28896451
RS ID: rs1970414362
ClinVar ID: CV879976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 12,995,387
GRCh38 19 12,884,573
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_825:g.7631G>C
NM_006563.5:c.*312G>C
NC_000019.10:g.12884573C>G
NC_000019.9:g.12995387C>G
More... 		01/13/2018 3 prime utr variant uncertain significance CDA, TYPE IV; Congenital dyserythropoietic anemia, type IV
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLF1
Accession:NM_006563
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122850 CLINVAR
dbSNP (RS) rs1970414362 CLINVAR
MedGen C3150926 CLINVAR
NCBI Gene KLF1 CLINVAR
OMIM 600599 CLINVAR
  613673 CLINVAR