rs269933 Rat Genome Database

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Variant: rs269933 -  Homo sapiens

RGD ID: 42723265
RS ID: rs269933
ClinVar ID: CV985427
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCR1  NLRP7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 55,439,166
GRCh38 19 54,927,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.54927798T>C
NC_000019.9:g.55439166T>C
NM_139176.4:c.2727-23A>G
NM_206828.4:c.2810+2701A>G
More... 		02/22/2021 intron variant benign Hydatid mole; Hydatidiform mole, recurrent; Hydatidiform Moles; Molar pregnancy; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NCR1
Accession:NM_001242356
Location:INTRON

Gene Symbol:NLRP7
Accession:NM_139176
Location:INTRON

Gene Symbol:NCR1
Accession:NM_001145458
Location:INTRON

Gene Symbol:NCR1
Accession:NM_001242357
Location:INTRON

Gene Symbol:NLRP7
Accession:NM_206828
Location:INTRON

Gene Symbol:NCR1
Accession:NM_001145457
Location:INTRON

Gene Symbol:NCR1
Accession:XM_011527530
Location:INTRON

Gene Symbol:NLRP7
Accession:NM_001127255
Location:INTRON

Gene Symbol:NLRP7
Accession:XM_047438386
Location:INTRON

Gene Symbol:NCR1
Accession:NM_004829
Location:INTRON

Gene Symbol:NCR1
Accession:XM_047439727
Location:INTRON

Gene Symbol:NLRP7
Accession:NM_001405531
Location:INTRON

Gene Symbol:NCR1
Accession:XM_011527529
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001293267 CLINVAR
  RCV004717776 CLINVAR
dbSNP (RS) rs269933 CLINVAR
MedGen C0020217 CLINVAR
  C3661900 CLINVAR
NCBI Gene NCR1 CLINVAR
  NLRP7 CLINVAR
OMIM 604530 CLINVAR
  609661 CLINVAR