RGD:8602417 Rat Genome Database

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Variant: RGD:8602417 -  Homo sapiens

RGD ID: 8602417
RS ID: rs200549195
ClinVar ID: CV40020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 65,369,895
GRCh38 15 65,077,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_021411.1:g.5742C>A
NC_000015.10:g.65077557C>A
NC_000015.9:g.65369895C>A
NP_001094832.1:p.Arg248Ser
More... 		06/16/2023 missense|missense variant pathogenic|uncertain significance all ages|childhood|variable 1-9 / 100 000|<1 / 1 000 000 AllHighlyPenetrant; 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: R to S (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQ
AVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPSYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*
Variant Samples
Additional References at PubMed
PMID:21109227   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024057 CLINVAR
  RCV003317045 CLINVAR
dbSNP (RS) rs200549195 CLINVAR
MedGen C1836472 CLINVAR
  CN169374 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR
OMIM Allele 613727.0003 CLINVAR