Variant #0000819479 (NC_000011.9:g.76867970_76867975del, NM_000260.3:c.655_660del (MYO7A))

Individual ID 00388891
Chromosome 11
Allele Parent #1
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.76867970_76867975del
DNA change (hg38) g.77156924_77156929del
Published as MYO7A, variant 1: c.655_660del/p.I219_H220del, variant 2: c.655_660del/p.I219_H220del
ISCN -
DB-ID MYO7A_000174 See all 5 reported entries
Variant remarks solved, homozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-08 10:11:04 +01:00 (CET)
Date last edited 2025-03-10 22:32:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO7A NM_000260.3 +?/. - c.655_660del r.(?) p.(Ile219_His220del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000390134 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper MYO7A 1 LOVD


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