All variants in the OPHN1 gene

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 2 c.115G>A r.(?) p.(Val39Ile) - VUS g.67652748C>T g.68432906C>T - - OPHN1_000001 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline ? 12/208 cases - 0 - Lucy Raymond
-/. - c.115G>A r.(?) p.(Val39Ile) - benign g.67652748C>T g.68432906C>T - - OPHN1_000001 49 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303733 Germline - 49/2794 individuals - 0 - Mohammed Faruq
-/. - c.115G>A r.(?) p.(Val39Ile) - benign g.67652748C>T g.68432906C>T - - OPHN1_000001 33 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303733 Germline - 33/2794 individuals - 0 - Mohammed Faruq
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