RGD:13608096 Rat Genome Database

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Variant: RGD:13608096 -  Homo sapiens

RGD ID: 13608096
RS ID: rs1052175397
ClinVar ID: CV529084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 65,369,630
GRCh38 15 65,077,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_682t1:c.477C>G
NP_001094832.1:p.Ala159=
NC_000015.9:g.65369630C>G
LRG_682:g.5477C>G
More... 		04/08/2020 synonymous variant likely benign Nemaline myopathy 6, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KBTBD13
Accession:NM_001101362
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQ
AVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000639961 CLINVAR
dbSNP (RS) rs1052175397 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR