RGD:329397512 Rat Genome Database

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Variant: RGD:329397512 -  Homo sapiens

RGD ID: 329397512
ClinVar ID: CV2466268
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 12,987,057
GRCh38 19 12,876,243
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.830A>G
NG_054729.1:g.47313T>C
NC_000019.10:g.12876243T>C
NC_000019.9:g.12987057T>C
More... 		02/27/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGEAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQ
PLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYS
GWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNVSQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQ
RGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003220075 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DNASE2 CLINVAR
OMIM 126350 CLINVAR