RGD:11604997 Rat Genome Database

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Variant: RGD:11604997 -  Homo sapiens

RGD ID: 11604997
RS ID: rs143731661
ClinVar ID: CV316197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf43  HNF1A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 121,439,442
GRCh38 12 121,001,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_522:g.27894T>A
NG_011731.2:g.27894T>A
NC_000012.12:g.121001639T>A
NC_000012.11:g.121439442T>A
More... 		01/12/2018 3 prime utr variant benign|likely benign Diabetes mellitus MODY type 3; Mason type diabetes; MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:NM_001306179
Location:3UTRS;EXON

Gene Symbol:C12orf43
Accession:XM_017019829
Location:3UTRS;EXON

Gene Symbol:HNF1A
Accession:XM_024449168
Location:3UTRS;EXON

Gene Symbol:HNF1A
Accession:NM_000545
Location:3UTRS;EXON

Gene Symbol:C12orf43
Accession:NM_001286196
Location:3UTRS;EXON

Gene Symbol:C12orf43
Accession:NM_001286191
Location:3UTRS;EXON

Gene Symbol:HNF1A
Accession:NM_001406915
Location:3UTRS;EXON

Gene Symbol:C12orf43
Accession:NM_022895
Location:3UTRS;EXON

Gene Symbol:C12orf43
Accession:NM_001286197
Location:INTRON

Gene Symbol:C12orf43
Accession:NM_001286192
Location:INTRON

Gene Symbol:C12orf43
Accession:XM_047429368
Location:INTRON

Gene Symbol:C12orf43
Accession:NM_001286195
Location:INTRON

Gene Symbol:C12orf43
Accession:NM_001286198
Location:INTRON

Gene Symbol:C12orf43
Accession:NR_104409
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:31517624   PMID:32395877   PMID:35328643   PMID:35673428  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000314674 CLINVAR
  RCV002328816 CLINVAR
dbSNP (RS) rs143731661 CLINVAR
MedGen C0342276 CLINVAR
  C1838100 CLINVAR
NCBI Gene C12orf43 CLINVAR
  HNF1A CLINVAR
OMIM 142410 CLINVAR
  600496 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR