RGD:12741260 Rat Genome Database

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Variant: RGD:12741260 -  Homo sapiens

RGD ID: 12741260
RS ID: rs1057518429
ClinVar ID: CV360622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX53  PTCHD1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 23,018,986
GRCh38 X 23,000,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021439.1:g.5900G>A
NC_000023.11:g.23000869G>A
NC_000023.10:g.23018986G>A
NP_874358.2:p.Gly271Glu
More... 		12/12/2016 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DDX53
Accession:NM_182699
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNT
KIQIINGESEAKVRIFGNREMKAKAKAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAV
VECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKSGEKRLIPKPTCRFKDAFQQYPDLLKSIIRV
GIVKPTPIQSQAWPIILQGIDLIVVAQTGTEKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAECSKYS
YKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPD
RQTVMTSATWPDTVRQLALSYLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIA
DDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTDIVSRGLDLNDVTHVYNYDFPRNIDVYVHRVGYIGR
TGKTGTSVTLITQRDSKMAGELIKILDRANQSVPEDLVVMAEQYKLNQQKRHRETRSRKPGQRRKEFYFLS*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000414563 CLINVAR
dbSNP (RS) rs1057518429 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DDX53 CLINVAR
  PTCHD1-AS CLINVAR
OMIM 301079 CLINVAR