RGD:156346466 Rat Genome Database

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Variant: RGD:156346466 -  Homo sapiens

RGD ID: 156346466
ClinVar ID: CV2300579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPRX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,139,920
GRCh38 19 53,636,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.53636666C>T
NC_000019.9:g.54139920C>T
NM_001012728.1:c.254C>T
NP_001012746.1:p.Thr85Ile
More... 		08/17/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DPRX
Accession:NM_001012728
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSLQKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIH
QKQEIPQPPIPEGGVSTSVGLRNADTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNI
YCLYPILESQVCAPSFHSGSPACSSNQSRER*

Gene Symbol:DPRX
Accession:XM_011527011
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSLQKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIH
QKQEIPQPPIPEGGVSTSVGLRNADTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNI
YCLYPILESQVCAPSFHSGSPACSSNQSRER*

Gene Symbol:DPRX
Accession:XM_011527012
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSLQKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIH
QKQEIPQPPIPEGGVSTSVGLRNADTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNI
YCLYPILESQVCAPSFHSGSPACSSNQSRER*

Gene Symbol:DPRX
Accession:XM_047438893
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSLQKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIH
QKQEIPQPPIPEGGVSTSVGLRNADTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNI
YCLYPILESQVCAPSFHSGSPACSSNQSRER*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002900912 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DPRX CLINVAR
OMIM 611165 CLINVAR