RGD:13818493 Rat Genome Database

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Variant: RGD:13818493 -  Homo sapiens

RGD ID: 13818493
RS ID: rs1293899823
ClinVar ID: CV569546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 65,369,871
GRCh38 15 65,077,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001101362.3:c.718G>A
LRG_682t1:c.718G>A
LRG_682:g.5718G>A
NG_021411.1:g.5718G>A
More... 		11/29/2018 missense variant uncertain significance 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: E to K (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQ
AVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHK
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000707715 CLINVAR
dbSNP (RS) rs1293899823 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR