RGD:156261240 Rat Genome Database

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Variant: RGD:156261240 -  Homo sapiens

RGD ID: 156261240
ClinVar ID: CV2059412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TENT5A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 82,459,928
GRCh38 6 81,750,211
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.813C>A
NG_056210.1:g.7501C>A
NP_060103.2:p.Ala271=
NC_000006.12:g.81750211G>T
More... 		05/12/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TENT5A
Accession:NM_017633
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGGGGSFGGHCLDYCESPTAHCNVLNWEQVQRLDGILSE
TIPIHGRGNFPTLELQPSLIVKVVRRRLAEKRIGVRDVRLNGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDV
VLDCLLDFLPEGVNKEKITPLTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKFVDSLRRQFEFSVDSFQIKLDSL
LLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLCNKIIATRNPEEIRGGGLLKYCNLLVRGFRPASDEIKTLQRYMCS
RFFIDFSDIGEQQRKLESYLQNHFVGLEDRKYEYLMTLHGVVNESTVCLMGHERRQTLNLITMLAIRVLADQNVIPNVAN
VTCYYQPAPYVADANFSNYYIAQVQPVFTCQQQTYSTWLPCN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002806335 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TENT5A CLINVAR
OMIM 611357 CLINVAR