RGD:151891053 Rat Genome Database

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Variant: RGD:151891053 -  Homo sapiens

RGD ID: 151891053
RS ID: rs2140241105
ClinVar ID: CV1346883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827685  SIX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 61,115,489
GRCh38 14 60,648,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005982.4:c.419G>A
NG_008231.1:g.5667G>A
NC_000014.9:g.60648771C>T
NC_000014.8:g.61115489C>T
More... 		10/08/2021 missense variant uncertain significance 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:NM_005982
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLQEWYAHNPYPSPREKRELAEA
TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS*

Gene Symbol:SIX1
Accession:XM_017021602
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLQEWYAHNPYPSPREKRELAEA
TGLTTTQGEHRKQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002038989 CLINVAR
dbSNP (RS) rs2140241105 CLINVAR
MedGen C1842124 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR