RGD:13805801 Rat Genome Database

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Variant: RGD:13805801 -  Homo sapiens

RGD ID: 13805801
RS ID: rs773454367
ClinVar ID: CV573461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KBTBD13  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 65,369,425
GRCh38 15 65,077,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_682:g.5272C>A
LRG_682t1:c.272C>A
NG_021411.1:g.5272C>A
NC_000015.10:g.65077087C>A
More...
03/23/2020 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: P to Q (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQ
AVECAAFLQAQALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAV
STHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAV
VEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRG
DTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000700296 CLINVAR
dbSNP (RS) rs773454367 CLINVAR
MedGen C1836472 CLINVAR
NCBI Gene KBTBD13 CLINVAR
OMIM 609273 CLINVAR
  613727 CLINVAR