RGD:15112011 Rat Genome Database

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Variant: RGD:15112011 -  Homo sapiens

RGD ID: 15112011
RS ID: rs748903952
ClinVar ID: CV693520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827684  SIX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 61,115,443
GRCh38 14 60,648,725
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.465G>A
NG_008231.1:g.5713G>A
NC_000014.9:g.60648725C>T
NC_000014.8:g.61115443C>T
More... 		04/02/2018 synonymous variant likely benign Autosomal dominant nonsyndromic hearing loss 23; BO SYNDROME 3; Branchiootorenal syndrome 1; 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 R (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS*

Gene Symbol:SIX1
Accession:XM_017021602
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNH
PKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEA
TGLTTTQGEHRKQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002507522 CLINVAR
  RCV003768672 CLINVAR
dbSNP (RS) rs748903952 CLINVAR
MedGen C1842124 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 113650 CLINVAR
  601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR