rs1176788381 Rat Genome Database

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Variant: rs1176788381 -  Homo sapiens

RGD ID: 151732628
RS ID: rs1176788381
ClinVar ID: CV1336396
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX53  PTCHD1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 23,018,198
GRCh38 X 23,000,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182699.4:c.24G>A
NG_021439.1:g.5112G>A
NC_000023.11:g.23000081G>A
NC_000023.10:g.23018198G>A
More... 		11/10/2017 nonsense uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DDX53
Accession:NM_182699
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHWAPE*KRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNT
KIQIINGESEAKVRIFGNREMKAKAKAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAV
VECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKSGEKRLIPKPTCRFKDAFQQYPDLLKSIIRV
GIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAECSKYS
YKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPD
RQTVMTSATWPDTVRQLALSYLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIA
DDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTDIVSRGLDLNDVTHVYNYDFPRNIDVYVHRVGYIGR
TGKTGTSVTLITQRDSKMAGELIKILDRANQSVPEDLVVMAEQYKLNQQKRHRETRSRKPGQRRKEFYFLS*

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

Variant Samples
Additional References at PubMed
PMID:29127259  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001849624 CLINVAR
dbSNP (RS) rs1176788381 CLINVAR
MedGen C0027726 CLINVAR
NCBI Gene DDX53 CLINVAR
  PTCHD1-AS CLINVAR
OMIM 301079 CLINVAR
SNOMED CT 52254009 CLINVAR