RGD:11625349 Rat Genome Database

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Variant: RGD:11625349 -  Homo sapiens

RGD ID: 11625349
RS ID: rs777431652
ClinVar ID: CV341034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 65,369,381
GRCh38 15 65,077,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001101362.2:c.228C>G
LRG_682t1:c.228C>G
LRG_682:g.5228C>G
NG_021411.1:g.5228C>G
More... 		02/17/2020 missense variant likely benign|conflicting interpretations of pathogenicity|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: D to E (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEEELLQ
AVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000945832 CLINVAR
dbSNP (RS) rs777431652 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR