Variant #0000382822 (NC_000011.9:g.76903288C>T, NM_000260.3:c.4117C>T (MYO7A))

Individual ID 00168932
Chromosome 11
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76903288C>T
DNA change (hg38) g.77192243C>T
Published as -
ISCN -
DB-ID MYO7A_000185 See all 6 reported entries
Variant remarks Heterozygous
Reference PubMed: Baux, Vaché 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -MwoI;-BstAPI;
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2017-08-14 16:59:55 +02:00 (CEST)
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 +/+ 31 c.4117C>T r.(?) p.(Arg1373*) FERM 1 (1258-1602)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169804 DNA SEQ;SEQ-NG-S - - - 2 Anne-Françoise Roux


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