Full data view for gene MYO6


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_004999.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+?/. 26 c.2717C>A r.(?) p.(Ser906∗) - Paternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested. PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ, SEQ-NG-IT Blood - HL III:1 PubMed: Sampaio-Silva 2018 - F no Brazil Brazilian admixed >34y - - - 12 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested - ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL II:2 PubMed: Sampaio-Silva 2018 Father of #00335525 M no Brazil Brazilian admixed >65y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Unknown ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affedted family members PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL I:1 PubMed: Sampaio-Silva 2018 Paternal grandmother of #00335525 F no Brazil Brazilian admixed >90y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ - - HL II:3 PubMed: Sampaio-Silva 2018 paternal aunt of #00335525 F no Brazil Brazilian admixed >60y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL II:5 PubMed: Sampaio-Silva 2018 paternal aunt of #00335525 F no Brazil Brazilian admixed >56y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Paternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Dantas 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL II:7 PubMed: Sampaio-Silva 2018 paternal uncle of #00335525 M no Brazil Brazilian admixed >69y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL II:9 PubMed: Sampaio-Silva 2018 paternal uncle of #00335525 M no Brazil Brazilian admixed >67y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL II:12 PubMed: Sampaio-Silva 2018 paternal uncle of #00335525 M no Brazil Brazilian admixed >54y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL III:2 PubMed: Sampaio-Silva 2018 paternal first cousin of Individual #00335525 F no Brazil Brazilian admixed >34y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Paternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL III:4 PubMed: Sampaio-Silva 2018 paternal first cousin of Individual #00335525 F no Brazil Brazilian admixed >47y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Maternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL IV:1 PubMed: Sampaio-Silva 2018 paternal second cousin of Individual #00335525 F no Brazil Brazilian admixed >15y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Paternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL III:5 PubMed: Sampaio-Silva 2018 paternal first cousin of Individual #00335525 F no Brazil Brazilian admixed >34y - - - 1 Karina Lezirovitz Mandelbaum
+?/. 26 c.2717C>A r.(?) p.(Ser906*) - Paternal (confirmed) ACMG pathogenic (dominant) g.76599832C>A - - - MYO6_000122 plus 12 affected family members tested PubMed: Sampaio-Silva et al., 2018 ClinVar-544693 rs1554218566 Germline yes - - - - DNA SEQ Blood - HL III:6 PubMed: Sampaio-Silva 2018 paternal first cousin of Individual #00335525 F no Brazil Brazilian admixed >37y - - - 1 Karina Lezirovitz Mandelbaum
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