RGD:13508633 Rat Genome Database

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Variant: RGD:13508633 -  Homo sapiens

RGD ID: 13508633
RS ID: rs754609693
ClinVar ID: CV481236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ECHS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 135,180,471
GRCh38 10 133,366,967
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042077.1:g.11438C>T
NC_000010.11:g.133366967G>A
NC_000010.10:g.135180471G>A
NM_004092.3:c.541C>T
More... 		05/05/2017 missense variant likely pathogenic PxMD-ECHS1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ECHS1
Accession:NM_004092
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDP
AVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQF
AQPEILIGTIPGAGGTQRLTCAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMA
KESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000578160 CLINVAR
dbSNP (RS) rs754609693 CLINVAR
MedGen C4225391 CLINVAR
NCBI Gene ECHS1 CLINVAR
OMIM 602292 CLINVAR
  616277 CLINVAR