RGD:156050420 Rat Genome Database

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Variant: RGD:156050420 -  Homo sapiens

RGD ID: 156050420
ClinVar ID: CV2140801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  LOC117125588  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 12,991,951
GRCh38 19 12,881,137
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.102G>C
NC_000019.10:g.12881137C>G
NC_000019.9:g.12991951C>G
NP_001366.1:p.Lys34Asn
 01/28/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYNLPALRGSGEAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQ
PLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYS
GWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNVNQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQ
RGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002999854 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNASE2 CLINVAR
  LOC117125588 CLINVAR
OMIM 126350 CLINVAR