Full data view for gene MYO7A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000260.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 4i c.285+2T>G r.spl p.? - Both (homozygous) - pathogenic g.76858998T>G g.77147952T>G - - MYO7A_000773 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - F yes Israel Morocco;Jewish - - - - 1 Dror Sharon
+/. 7i c.285+2T>G r.spl p.? - Unknown - pathogenic g.76858998T>G g.77147952T>G - - MYO7A_000773 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - M no Israel Morocco;Jewish - - - - 1 Dror Sharon
+/. - c.285+2T>G r.spl p.? - Unknown ACMG pathogenic g.76858998T>G - - - MYO7A_000773 - PubMed: Sharon 2019 - - Germline - 7/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 7 IRD families - - Israel - - - - - 7 Global Variome, with Curator vacancy
+/. 4i c.285+2T>G r.spl? p.? - Unknown - pathogenic g.76858998T>G - c.285+2T>G - MYO7A_000773 - PubMed: Colombo-2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
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