RGD:9692031 Rat Genome Database

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Variant: RGD:9692031 -  Homo sapiens

RGD ID: 9692031
RS ID: rs727503322
ClinVar ID: CV175743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 57,433,068
GRCh38 12 57,039,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012104.1:g.15826C>T
NC_000012.12:g.57039284G>A
NC_000012.11:g.57433068G>A
NM_005379.2:c.1270-10C>T
More... 		07/16/2014 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MYO1A
Accession:NM_001256041
Location:INTRON

Gene Symbol:MYO1A
Accession:XM_047428876
Location:INTRON

Gene Symbol:MYO1A
Accession:NM_005379
Location:INTRON

Gene Symbol:MYO1A
Accession:XM_011538373
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000151447 CLINVAR
dbSNP (RS) rs727503322 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MYO1A CLINVAR
OMIM 601478 CLINVAR