RGD:11616755 Rat Genome Database

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Variant: RGD:11616755 -  Homo sapiens

RGD ID: 11616755
RS ID: rs55979529
ClinVar ID: CV338019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 36,678,240
GRCh38 22 36,282,194
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_567:g.110825C>T
NG_011884.2:g.110825C>T
NC_000022.11:g.36282194G>A
NC_000022.10:g.36678240G>A
More... 		01/12/2018 3 prime utr variant benign|uncertain significance Autosomal dominant nonsyndromic deafness 17; Deafness, autosomal dominant 17; Deafness, autosomal dominant nonsyndromic sensorineural 17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; none provided; Nonsyndromic hereditary deafness DFNA17
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH9
Accession:NM_002473
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297726 CLINVAR
  RCV000336344 CLINVAR
  RCV003437086 CLINVAR
dbSNP (RS) rs55979529 CLINVAR
MedGen C1854520 CLINVAR
  C1863659 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYH9 CLINVAR
OMIM 160775 CLINVAR
  603622 CLINVAR