Full data view for gene PDZD7


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_001195263.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
-?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown - likely benign g.102777967A>G g.101018210A>G PDZD7(NM_001195263.1):c.1411T>C (p.F471L), PDZD7(NM_001195263.2):c.1411T>C (p.F471L) - PDZD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown - likely benign g.102777967A>G g.101018210A>G PDZD7(NM_001195263.1):c.1411T>C (p.F471L), PDZD7(NM_001195263.2):c.1411T>C (p.F471L) - PDZD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown ACMG VUS g.102777967A>G g.101018210A>G - - PDZD7_000025 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-907 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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