RGD:28872443 Rat Genome Database

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Variant: RGD:28872443 -  Homo sapiens

RGD ID: 28872443
RS ID: rs1045686887
ClinVar ID: CV871845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-1  SFTA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 36,985,906
GRCh38 14 36,516,701
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079668.2:c.*577C>T
NC_000014.8:g.36985906G>A
NG_013365.1:g.8525C>T
NC_000014.9:g.36516701G>A
More... 		01/13/2018 3 prime utr variant uncertain significance CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-1
Accession:NM_001079668
Location:3UTRS;EXON

Gene Symbol:NKX2-1
Accession:NM_003317
Location:3UTRS;EXON

Gene Symbol:SFTA3
Accession:NR_138599
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138601
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138597
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138600
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138598
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161364
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161365
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161363
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161362
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114548 CLINVAR
  RCV001114549 CLINVAR
dbSNP (RS) rs1045686887 CLINVAR
MedGen C0393584 CLINVAR
  C1970269 CLINVAR
NCBI Gene NKX2-1 CLINVAR
  SFTA3 CLINVAR
OMIM 118700 CLINVAR
  600635 CLINVAR
  610978 CLINVAR
  617860 CLINVAR
SNOMED CT 230306001 CLINVAR