RGD:28868494 Rat Genome Database

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Variant: RGD:28868494 -  Homo sapiens

RGD ID: 28868494
RS ID: rs190088995
ClinVar ID: CV882399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH14  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 50,813,474
GRCh38 19 50,310,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024729.3:c.*427T>C
NM_001077186.2:c.*427T>C
NC_000019.10:g.50310217T>C
NM_001145809.2:c.*427T>C
More... 		01/12/2018 3 prime utr variant likely benign Deafness, autosomal dominant 4; Deafness, autosomal dominant 4A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH14
Accession:NM_001077186
Location:3UTRS;EXON

Gene Symbol:MYH14
Accession:NM_024729
Location:3UTRS;EXON

Gene Symbol:MYH14
Accession:NM_001145809
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001129992 CLINVAR
dbSNP (RS) rs190088995 CLINVAR
MedGen C1833503 CLINVAR
NCBI Gene MYH14 CLINVAR
OMIM 600652 CLINVAR
  608568 CLINVAR