RGD:155943121 Rat Genome Database

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Variant: RGD:155943121 -  Homo sapiens

RGD ID: 155943121
ClinVar ID: CV2130018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 12,987,079
GRCh38 19 12,876,265
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.808A>G
NG_054729.1:g.47335T>C
NC_000019.10:g.12876265T>C
NC_000019.9:g.12987079T>C
More... 		01/03/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGEAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQ
PLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYS
GWLAAALGTNLQVQFWHKTVGILPSNCSDVWQVLNVNQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQ
RGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002971421 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNASE2 CLINVAR
OMIM 126350 CLINVAR