RGD:155943172 Rat Genome Database

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Variant: RGD:155943172 -  Homo sapiens

RGD ID: 155943172
ClinVar ID: CV2032444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  LOC117125588  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 12,991,926
GRCh38 19 12,881,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375.3:c.127G>C
NC_000019.10:g.12881112C>G
NC_000019.9:g.12991926C>G
NP_001366.1:p.Glu43Gln
 12/19/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGQAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQ
PLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYS
GWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNVNQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQ
RGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002730247 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DNASE2 CLINVAR
  LOC117125588 CLINVAR
OMIM 126350 CLINVAR