LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013570)
Disease -
Phenotype additional -
Remarks -
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin -
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 4
DNA change c.193G>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(Ala65Ser)
DB-ID CRYBB2_00023
Variant remarks -
Origin germline (inherited)
Reference dbSNP-rs16986560
Detection/Template DNA
Detection/Technique SEQ
Frequency 0.00-0.05
RE-site -

6 entries in CRYBB2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Unknown 2 c.14A>T - r.(?) p.(His5Leu) CRYBB2_00022 - germline (inherited) dbSNP-rs7291633 DNA SEQ 0.00 -
?/? Unknown 4 c.193G>T - r.(?) p.(Ala65Ser) CRYBB2_00023 - germline (inherited) dbSNP-rs16986560 DNA SEQ 0.00-0.05 -
?/? Unknown 5 c.433C>T - r.(?) p.(Arg145Trp) CRYBB2_00020 origin probable gene conversion with CRYBB2P1 germline (inherited) dbSNP-rs2330991 DNA SEQ - -
?/? Unknown 5 c.440A>G - r.(?) p.(Gln147Arg) CRYBB2_00010 - germline (inherited) dbSNP-rs2330992 DNA SEQ - -
?/? Unknown 5 c.449C>T - r.(spl?) p.(Tyr150Met) CRYBB2_00011 - germline (inherited) dbSNP-rs4049504 DNA SEQ - -
?/? Unknown 5i c.449+9G>A - r.(=) p.(=) CRYBB2_00006 - germline (inherited) dbSNP-rs55700037, rs57112959 DNA SEQ 0.67-1.0 -