RGD:13479995 Rat Genome Database

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Variant: RGD:13479995 -  Homo sapiens

RGD ID: 13479995
RS ID: rs540778343
ClinVar ID: CV463856
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIX1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 61,113,212
GRCh38 14 60,646,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.60646494C>A
NC_000014.8:g.61113212C>A
NG_008231.1:g.7944G>T
NP_005973.1:p.Ser215Ile
More... 		05/01/2017 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:XM_017021602
Location:3UTRS;EXON

Gene Symbol:SIX1
Accession:NM_005982
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSISEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000528335 CLINVAR
dbSNP (RS) rs540778343 CLINVAR
MedGen C1842124 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR