RGD:150506919 Rat Genome Database

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Variant: RGD:150506919 -  Homo sapiens

RGD ID: 150506919
RS ID: rs9920739
ClinVar ID: CV1242331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 52,646,458
GRCh38 15 52,354,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_86t1:c.3424-247T>C
NM_000259.3:c.3424-247T>C
NM_001142495.2:c.3424-247T>C
NM_001382347.1:c.3424-247T>C
More... 		06/20/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MYO5A
Accession:NM_001382347
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432543
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432545
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001382348
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432544
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001382349
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001411135
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_001142495
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432546
Location:INTRON

Gene Symbol:MYO5A
Accession:NM_000259
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432541
Location:INTRON

Gene Symbol:MYO5A
Accession:XM_047432540
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001658686 CLINVAR
dbSNP (RS) rs9920739 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MYO5A CLINVAR
OMIM 160777 CLINVAR