Unique variants in the CHMP4B gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176812.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
-?/. 1 - c.171C>T r.(?) p.(His57=) - likely benign g.32399445C>T - CHMP4B(NM_176812.4):c.171C>T (p.H57=) - CHMP4B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.191-4G>T r.spl? p.? - likely benign g.32436269G>T - CHMP4B(NM_176812.4):c.191-4G>T - CHMP4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.308C>T r.(?) p.(Thr103Ile) - VUS g.32436390C>T g.33848584C>T CHMP4B(NM_176812.4):c.308C>T (p.T103I) - CHMP4B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.450G>A r.(?) p.(Ser150=) - likely benign g.32438839G>A - CHMP4B(NM_176812.4):c.450G>A (p.S150=) - CHMP4B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.481G>C r.(?) p.(Glu161Gln) - likely pathogenic g.32438870G>C g.33851064G>C CHMP4B c.481G>C, p.(Gly119Arg) - CHMP4B_000005 heterozygous, present in affected father PubMed: Bell 2021 - - Germline yes - - - - LOVD
-?/. 1 - c.612C>G r.(?) p.(Ala204=) - likely benign g.32441303C>G - CHMP4B(NM_176812.4):c.612C>G (p.A204=) - CHMP4B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.636C>T r.(?) p.(Asp212=) - likely benign g.32441327C>T g.33853521C>T CHMP4B(NM_176812.4):c.636C>T (p.D212=) - CHMP4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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