RGD:13469981 Rat Genome Database

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Variant: RGD:13469981 -  Homo sapiens

RGD ID: 13469981
RS ID: rs1291680168
ClinVar ID: CV465237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 65,370,401
GRCh38 15 65,078,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021411.1:g.6248C>G
NC_000015.9:g.65370401C>G
LRG_682p1:p.Ile416Met
LRG_682:g.6248C>G
More... 		10/24/2018 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: I to M (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQ
AVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAMEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000545799 CLINVAR
dbSNP (RS) rs1291680168 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR