RGD:127288575 Rat Genome Database

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Variant: RGD:127288575 -  Homo sapiens

RGD ID: 127288575
RS ID: rs542616645
ClinVar ID: CV1140563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,802,607
GRCh38 9 35,802,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003995.4:c.1815+3G>A
NM_001378923.1:c.1824+3G>A
NG_009249.1:g.15202G>A
NC_000009.12:g.35802610G>A
More... 		04/05/2020 intron variant likely benign Acromesomelic dwarfism Maroteux type; ACROMESOMELIC DYSPLASIA 1; Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, miura type; ST. HELENA DYSPLASIA; Tall stature-scoliosis-macrodactyly of the great toes syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPR2
Accession:NM_001378923
Location:INTRON

Gene Symbol:NPR2
Accession:XM_047423431
Location:INTRON

Gene Symbol:NPR2
Accession:XM_024447561
Location:INTRON

Gene Symbol:NPR2
Accession:NM_003995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001495297 CLINVAR
dbSNP (RS) rs542616645 CLINVAR
MedGen C1864356 CLINVAR
NCBI Gene NPR2 CLINVAR
OMIM 108961 CLINVAR
  602875 CLINVAR
  615923 CLINVAR