RGD:15159979 Rat Genome Database

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Variant: RGD:15159979 -  Homo sapiens

RGD ID: 15159979
RS ID: rs142086743
ClinVar ID: CV722154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TENT5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 82,461,623
GRCh38 6 81,751,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017633.3:c.236G>A
NG_056210.1:g.5806G>A
NC_000006.12:g.81751906C>T
NC_000006.11:g.82461623C>T
More...
07/26/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TENT5A
Accession:NM_017633
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGGGGSFGGHCLDYCESPTAHCNVLNWEQVQRLDGILNE
TIPIHGRGNFPTLELQPSLIVKVVRRRLAEKRIGVRDVRLNGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDV
VLDCLLDFLPEGVNKEKITPLTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKFVDSLRRQFEFSVDSFQIKLDSL
LLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLCNKIIATRNPEEIRGGGLLKYCNLLVRGFRPASDEIKTLQRYMCS
RFFIDFSDIGEQQRKLESYLQNHFVGLEDRKYEYLMTLHGVVNESTVCLMGHERRQTLNLITMLAIRVLADQNVIPNVAN
VTCYYQPAPYVADANFSNYYIAQVQPVFTCQQQTYSTWLPCN*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000881296 CLINVAR
dbSNP (RS) rs142086743 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TENT5A CLINVAR
OMIM 611357 CLINVAR