RGD:150452937 Rat Genome Database

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Variant: RGD:150452937 -  Homo sapiens

RGD ID: 150452937
RS ID: rs2290334
ClinVar ID: CV1276789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO5A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 52,615,712
GRCh38 15 52,323,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_86t1:c.4636-71A>G
NM_001142495.2:c.4555-71A>G
NM_000259.3:c.4636-71A>G
NM_001382349.1:c.4708-71A>G
More... 		11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MYO5A
Accession:NM_000259
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001382348
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432544
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432546
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001142495
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001382349
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432545
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001411135
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432540
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432541
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001382347
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432543
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001708579 CLINVAR
dbSNP (RS) rs2290334 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MYO5A CLINVAR
OMIM 160777 CLINVAR