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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
-?/. - c.1643G>A likely benign r.(?) p.(Arg548His) g.135768282C>T - AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H) - AHI1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1643G>A likely benign r.(?) p.(Arg548His) g.135768282C>T - AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H) - AHI1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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