RGD:11626501 Rat Genome Database

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Variant: RGD:11626501 -  Homo sapiens

RGD ID: 11626501
RS ID: rs376040199
ClinVar ID: CV352505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH9  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 36,685,354
GRCh38 22 36,289,308
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_567:g.103711C>G
NG_011884.2:g.103711C>G
NC_000022.11:g.36289308G>C
NC_000022.10:g.36685354G>C
More...
08/21/2022 intron variant benign|likely 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:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000264559 CLINVAR
  RCV000300978 CLINVAR
  RCV001566201 CLINVAR
dbSNP (RS) rs376040199 CLINVAR
MedGen C1854520 CLINVAR
  C1863659 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene MYH9 CLINVAR
OMIM 160775 CLINVAR
  603622 CLINVAR