All transcript variants in gene AHI1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 22 c.3032C>G - r.(?) p.(Ser1011*) g.135715991C>G - - - AHI1_000075 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+?/. - c.3032C>G likely pathogenic r.(?) p.(Ser1011*) g.135715991G>C - AHI1(NM_001134831.1):c.3032C>G (p.S1011*) - AHI1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.3032C>G pathogenic r.(?) p.(Ser1011*) g.135715991G>C - AHI1(NM_001134831.1):c.3032C>G (p.S1011*) - AHI1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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