RGD:15144127 Rat Genome Database

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Variant: RGD:15144127 -  Homo sapiens

RGD ID: 15144127
RS ID: rs3026404
ClinVar ID: CV693004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 31,804,978
GRCh38 11 31,783,430
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288726.2:c.*1G>C
NM_019040.5:c.1181G>C
NM_001288725.2:c.1323G>C
NG_034086.1:g.278702G>C
More... 		12/20/2018 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ELP4
Accession:NM_001288726
Location:3UTRS;EXON

Gene Symbol:ELP4
Accession:NM_001288725
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAV
GTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKI
AWRYQLLPKMEQIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYTKLLQFIQNIIYEEG
FDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTT
LSDVVVGLESFIGSERETNPLYKDYHGLIHIRQIPRLNNLICDESDVKDLAFKLKRKLFTIEWVQDNYLRQERNIYPPGF
SYLLKQKDSAWGEGSLQHSTFLMSFLAKATAFASRLVRHSDPLKQNGSGRIRQAAGPRLWHDGRRQEAPGLLGIPP*

Gene Symbol:ELP4
Accession:NM_019040
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAV
GTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKI
AWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYTKLLQFIQNIIYEEGF
DGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTTL
SDVVVGLESFIGSERETNPLYKDYHGLIHIRQIPRLNNLICDESDVKDLAFKLKRKLFTIERLHLPPDLSDTVTRSSKMD
LAESAKRLGPGCGMMAGGKKHLDF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000878168 CLINVAR
  RCV003930458 CLINVAR
dbSNP (RS) rs3026404 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ELP4 CLINVAR
OMIM 606985 CLINVAR