rs765925104 Rat Genome Database

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Variant: rs765925104 -  Homo sapiens

RGD ID: 15146991
RS ID: rs765925104
ClinVar ID: CV775646
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,519,828
GRCh38 11 17,498,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011883.2:g.51136C>T
NC_000011.10:g.17498281G>A
NM_001297764.2:c.1424-10C>T
NC_000011.9:g.17519828G>A
More... 		03/17/2020 intron variant likely benign|uncertain significance none provided; Usher syndrome, Acadian variety; USHER SYNDROME, TYPE I, ACADIAN VARIETY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_047426222
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017073
Location:INTRON

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017072
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426220
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519832
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:NR_123738
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000944836 CLINVAR
  RCV001276290 CLINVAR
dbSNP (RS) rs765925104 CLINVAR
MedGen C1848604 CLINVAR
  C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 276904 CLINVAR
  605242 CLINVAR