RGD:405258950 Rat Genome Database

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Variant: RGD:405258950 -  Homo sapiens

RGD ID: 405258950
ClinVar ID: CV3194202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX53  PTCHD1-AS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 23,019,318
GRCh38 X 23,001,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182699.3:c.1144C>A
NP_874358.2:p.Leu382Met
NM_182699.4:c.1144C>A
NG_021439.1:g.6232C>A
More... 		03/01/2022 missense variant likely benign DDX53-related condition

Variant Details
Variant Transcripts
Gene Symbol:DDX53
Accession:NM_182699
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNT
KIQIINGESEAKVRIFGNREMKAKAKAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAV
VECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKSGEKRLIPKPTCRFKDAFQQYPDLLKSIIRV
GIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAECSKYS
YKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMMDMEFEPQIRKILLDVRPD
RQTVMTSATWPDTVRQLALSYLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIA
DDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTDIVSRGLDLNDVTHVYNYDFPRNIDVYVHRVGYIGR
TGKTGTSVTLITQRDSKMAGELIKILDRANQSVPEDLVVMAEQYKLNQQKRHRETRSRKPGQRRKEFYFLS*

Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003893783 CLINVAR
NCBI Gene DDX53 CLINVAR
  PTCHD1-AS CLINVAR
OMIM 301079 CLINVAR