RGD:10398725 Rat Genome Database

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Variant: RGD:10398725 -  Homo sapiens

RGD ID: 10398725
RS ID: rs797044960
ClinVar ID: CV204589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827685  SIX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 61,115,535
GRCh38 14 60,648,817
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008231.1:g.5621G>A
NC_000014.9:g.60648817C>T
NC_000014.8:g.61115535C>T
NP_005973.1:p.Glu125Lys
More... 		09/01/2021 missense variant pathogenic|likely pathogenic|not provided childhood Autosomal dominant nonsyndromic hearing loss 23; BO SYNDROME 3; Deafness, autosomal dominant 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIX1
Accession:XM_017021602
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGKETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQGEHRKQ*

Gene Symbol:SIX1
Accession:NM_005982
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGKETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS*
Variant Samples
Additional References at PubMed
PMID:21700001   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000190433 CLINVAR
  RCV001852527 CLINVAR
  RCV002478668 CLINVAR
dbSNP (RS) rs797044960 CLINVAR
MedGen C1842124 CLINVAR
  C1854594 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR
OMIM Allele 601205.0005 CLINVAR