RGD:13539594 Rat Genome Database

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Variant: RGD:13539594 -  Homo sapiens

RGD ID: 13539594
RS ID: rs368974927
ClinVar ID: CV497038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIX1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 61,113,110
GRCh38 14 60,646,392
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008231.1:g.8046C>A
NC_000014.9:g.60646392G>T
NC_000014.8:g.61113110G>T
NP_005973.1:p.Pro249Gln
More... 		12/06/2019 missense variant benign|likely benign|uncertain significance AllHighlyPenetrant; Autosomal dominant nonsyndromic hearing loss 23; BO SYNDROME 3; Deafness, autosomal dominant 23; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIX1
Accession:XM_017021602
Location:3UTRS;EXON

Gene Symbol:SIX1
Accession:NM_005982
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLQGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613496 CLINVAR
  RCV001591374 CLINVAR
  RCV002066828 CLINVAR
dbSNP (RS) rs368974927 CLINVAR
MedGen C1842124 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR