RGD:28874300 Rat Genome Database

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Variant: RGD:28874300 -  Homo sapiens

RGD ID: 28874300
RS ID: rs943136426
ClinVar ID: CV880756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  LOC128897170  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 10,183,761
GRCh38 2 10,043,634
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017199.1:g.5080G>A
NC_000002.12:g.10043634G>A
NC_000002.11:g.10183761G>A
NM_003597.5:c.-83G>A
More... 		01/12/2018 5 prime utr variant uncertain significance Diabetes mellitus MODY type 7; MODY KLF11 related; MODY type 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLF11
Accession:NM_003597
Location:5UTRS;EXON

Gene Symbol:KLF11
Accession:NM_001177718
Location:INTRON

Gene Symbol:KLF11
Accession:NM_001177716
Location:INTRON

Gene Symbol:KLF11
Accession:XM_047446025
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001133321 CLINVAR
dbSNP (RS) rs943136426 CLINVAR
MedGen C1864839 CLINVAR
NCBI Gene KLF11 CLINVAR
  LOC128897170 CLINVAR
OMIM 603301 CLINVAR
  610508 CLINVAR