LOVD - Variant listings for CRYGD

About this overview [Show]

Patient data (#0013584)
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 2
DNA change c.109C>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(Arg37Ser)
DB-ID CRYGD_00005
Variant remarks -
Origin germline (inherited)
Reference dbSNP-rs121909597
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

8 entries in CRYGD

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.43C>T - r.(?) p.(Arg15Cys) CRYGD_00001 - germline (inherited) dbSNP-rs121909595 DNA SEQ - -
?/? Unknown 2 c.51T>C - r.(?) p.(=) CRYGD_00007 - germline (inherited) dbSNP-rs2242074 DNA SEQ 0.40-0.78 -
?/? Unknown 2 c.70C>A - r.(?) p.(Pro24Thr) CRYGD_00002 - germline (inherited) dbSNP-rs28931605 DNA SEQ - -
?/? Unknown 2 c.70C>T - r.(?) p.(Pro24Ser) CRYGD_00003 - germline (inherited) dbSNP-rs28931605 DNA SEQ - -
?/? Unknown 2 c.109C>A - r.(?) p.(Arg37Ser) CRYGD_00005 - germline (inherited) dbSNP-rs121909597 DNA SEQ - -
?/? Unknown 2 c.176G>A - r.(?) p.(Arg59His) CRYGD_00004 - germline (inherited) dbSNP-rs121909596 DNA SEQ - -
?/? Unknown 3 c.285A>G - r.(?) p.(=) CRYGD_00006 - germline (inherited) dbSNP-rs2305430 DNA SEQ 0.540.93 -
?/? Unknown 3 c.470G>A - r.(?) p.(Trp157*) CRYGD_00014 - germline (inherited) dbSNP-rs121909598 DNA SEQ - -