Variant #0000358289 (NC_000011.9:g.76901883G>A, NM_000260.3:c.3892G>A (MYO7A))

Individual ID 00155502
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76901883G>A
DNA change (hg38) g.77190838G>A
Published as -
ISCN -
DB-ID MYO7A_000784 See all 6 reported entries
Variant remarks -
Reference Sharon, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dror Sharon
Database submission license No license selected
Created by Dror Sharon
Date created 2018-03-18 14:37:15 +01:00 (CET)
Date last edited 2018-07-20 12:27:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO7A NM_000260.3 +?/. 29 c.3892G>A r.(?) p.(Gly1298Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156367 DNA SEQ - - MYO7A 1 Dror Sharon


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