RGD:126730813 Rat Genome Database

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Variant: RGD:126730813 -  Homo sapiens

RGD ID: 126730813
RS ID: rs751787859
ClinVar ID: CV992545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 118,812,036
GRCh38 8 117,799,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000127.3:c.2156A>C
LRG_493:g.317023A>C
NG_007455.2:g.317023A>C
NC_000008.11:g.117799797T>G
More... 		07/01/2020 missense variant uncertain significance Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; MULTIPLE OSTEOCHONDROMAS
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EXT1
Accession:NM_000127
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 719
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHI
SPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDT
LDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYE
KYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDK
ILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDA
VLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPA
SLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIPS
QMRLDPVLFKDQVSILRKKYRDIERL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001303794 CLINVAR
dbSNP (RS) rs751787859 CLINVAR
MedGen C0015306 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 133700 CLINVAR
  608177 CLINVAR
SNOMED CT 254044004 CLINVAR