RGD:10398723 Rat Genome Database

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Pathways
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Variant: RGD:10398723 -  Homo sapiens

RGD ID: 10398723
RS ID: rs758478717
ClinVar ID: CV204587
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,792,733
GRCh38 9 35,792,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009249.1:g.5328C>T
NC_000009.12:g.35792736C>T
NC_000009.11:g.35792733C>T
NP_003986.2:p.Arg110Cys
More... 		05/04/2020 missense variant pathogenic|likely pathogenic|uncertain significance Acromesomelic dwarfism Maroteux type; ACROMESOMELIC DYSPLASIA 1; Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, miura type; none provided; 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:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSELEGACSEYLA
PLSAVDLKLYHDPDLLLGPGCVYPAASVACFASHWRLPLLTAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHF
NWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQA
QRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRARED
FGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDL
DSGDFQPAAHYSGAEKQIWWTGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRP
YRKLMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKR
IELTRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNS
IISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEI
ALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFGQIKGFIRRFNKEGGTSI
LDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAES
TPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLR
IGVHTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLL
GERKGPPGLL*

Gene Symbol:NPR2
Accession:NM_003995
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSELEGACSEYLA
PLSAVDLKLYHDPDLLLGPGCVYPAASVACFASHWRLPLLTAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHF
NWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQA
QRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRARED
FGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDL
DSGDFQPAAHYSGAEKQIWWTGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRK
LMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIEL
TRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNSIIS
SHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEIALR
SGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFGQIKGFIRRFNKEGGTSILDN
LLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPM
QVVTLLNDLYTCFDAIIDNFDVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGV
HTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLLGER
KGPPGLL*

Gene Symbol:NPR2
Accession:XM_024447561
Location:INTRON

Gene Symbol:NPR2
Accession:XM_047423431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24471569   PMID:25741868   PMID:28492532   PMID:33288834   PMID:35368703  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000190431 CLINVAR
  RCV001263517 CLINVAR
  RCV001781561 CLINVAR
  RCV001857670 CLINVAR
dbSNP (RS) rs758478717 CLINVAR
MedGen C1864356 CLINVAR
  C3661900 CLINVAR
  C4225399 CLINVAR
NCBI Gene NPR2 CLINVAR
OMIM 108961 CLINVAR
  602875 CLINVAR
  615923 CLINVAR
  616255 CLINVAR
OMIM Allele 108961.0012 CLINVAR