RGD:13537347 Rat Genome Database

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Variant: RGD:13537347 -  Homo sapiens

RGD ID: 13537347
RS ID: rs751113264
ClinVar ID: CV503603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ECHS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 135,182,521
GRCh38 10 133,369,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004092.4:c.420C>T
NM_004092.3:c.420C>T
NG_042077.1:g.9388C>T
NC_000010.11:g.133369017G>A
More...
09/18/2017 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ECHS1
Accession:NM_004092
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDP
AVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQF
AQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMA
KESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000610282 CLINVAR
dbSNP (RS) rs751113264 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ECHS1 CLINVAR
OMIM 602292 CLINVAR