Full data view for gene CRYGD

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006891.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Santhiya 2002, OMIM:var0004 - rs28931605 Germline - - - - - DNA SEQ - - CTRCT - - affected father and daugther - - India - - - - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T 305C>A (P23T) - CRYGD_000002 mapped by linkage; not in 200 control chromosomes PubMed: Nandrot 2003, OMIM:var0004 - rs28931605 Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 19 affecteds - - Morocco - - - - - 19 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T C>A (P23T) - CRYGD_000002 linked by mapping (LOD score 3.81); not in 340 control chromosomes PubMed: Mackay 2004 - rs28931605 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - United States white - - - - 8 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.Pro24Thr Unknown - NA g.208989018G>T g.208124294G>T - - CRYGD_000002 expression cloning, less soluble in HLE B-3 cells PubMed: Mackay 2004 - rs28931605 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.70C>A r.(?) p.Pro24Thr Parent #1 - pathogenic g.208989018G>T g.208124294G>T - - CRYGD_000002 mapped by linkage; not in 206 control chromosomes PubMed: Zhang 2009 - rs28931605 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - China - - - - - 7 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic g.208989018G>T g.208124294G>T 305C>A (P23T) - CRYGD_000002 mapped by linkage (LOD score 3.72); not in 200 control chromosomes PubMed: Burdon 2004 - rs28931605 Germline - - - - - DNA SSCA, SEQ - - CTRCT - - 5-generation family, 21 affecteds - - United States - - - - - 21 Johan den Dunnen
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y - - - 5 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - - - DNA PCR - - CCTRCT 19633732-Fam1PatII4 PubMed: Khan 2009 PatII4 M no Saudi Arabia - >06y - - - 1 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline yes - - - - DNA PCR - - CCTRCT 19633732-Fam1PatII1 PubMed: Khan 2009 PatII1 M no Saudi Arabia - - - - Surgery 1 Jamie Zeegers
+?/. 2 c.70C>A r.(?) p.(Pro24Thr) Parent #1 - likely pathogenic g.208989018G>T g.208124294G>T P23T - CRYGD_000002 - PubMed: Khan 2009 - - Germline/De novo (untested) - - - - - DNA PCR - - CCTRCT 19633732-Fam2PatII1 PubMed: Khan 2009 2-generation family, 1 affected F yes Saudi Arabia - >07y - - - 1 Jamie Zeegers
+?/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - likely pathogenic g.208989018G>T g.208124294G>T c.70C-->A; p.Pro24Thr - CRYGD_000002 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CTRCT4 191 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam22 PubMed: Zhai 2017 3-generation family, 2 affected (F, M) F - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26301 PubMed: Jackson 2020 - - - - Africa;black - - - - 1 Johan den Dunnen
+?/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 ACMG likely pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PM1, PM2, PP1, PP2, PP5 PubMed: Zhuang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel CTRCT CAT-46 PubMed: Zhuang 2019 family - - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam5PatIII13 PubMed: Li 2018 4-generation family, 14 affected (6F, 8M) M - China - - - - - 14 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam2 PubMed: Fan 2020 2-generation family, affected father/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam5 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Ma 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam31PatIII1 PubMed: Ma 2016 3-generation family, affected mother/son/grandmother M - Australia - - - - - 3 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Taylan Sekeroglu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam3PatIII3 PubMed: Taylan Sekeroglu 2020 3-generation family, affected father/daughter F - Turkey - - - - - 2 Johan den Dunnen
+?/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - likely pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PS3, PS4mod, PM2 PubMed: Kessel 2021 VCV000016940.3 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000659 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC02 PubMed: Wang 2023 4-generation family, 8 affected (4F, 4M) F;M - China - - - - - 8 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC07 PubMed: Wang 2023 4-generation family, 7 affected (2F, 5M) F;M - China - - - - - 7 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC21 PubMed: Wang 2023 4-generation family, 10 affected (4F, 6M) F;M - China - - - - - 10 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC47 PubMed: Wang 2023 3-generation family, 6 affected (4F, 2M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC165 PubMed: Wang 2023 3-generation family, 6 affected (3F, 3M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC198 PubMed: Wang 2023 4-generation family, 6 affected (4F, 2M) F;M - China - - - - - 6 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC248 PubMed: Wang 2023 4-generation family, 5 affected (2F, 3M) F;M - China - - - - - 5 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC281 PubMed: Wang 2023 4-generation family, 3 affected (2F, M) F;M - China - - - - - 3 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC345 PubMed: Wang 2023 4-generation family, 4 affected (F, 3M) F;M - China - - - - - 4 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Wang 2023 - - Germline - - - - - DNA SEQ - - CTRCT FamCC382 PubMed: Wang 2023 4-generation family, 5 affected (3F, 2M) F;M - China - - - - - 5 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat152 PubMed: Liu 2023 4-generation family, 6 affected (2F, 4M) M - China - - - - - 6 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat153 PubMed: Liu 2023 relative M - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam56Pat155 PubMed: Liu 2023 relative F - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam77Pat211 PubMed: Liu 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam89Pat246 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam89Pat247 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Paternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam108Pat292 PubMed: Liu 2023 2-generation family, affected father/son M - China - - - - - 2 Johan den Dunnen
+/. 2 c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Liu 2023 rs28931605 rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam108Pat293 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Cai 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - 134 gene panel CTRCT FamI PubMed: Cai 2021 4-generation family, 20 affected (8F, 12M) F;M no China - - - - - 20 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Cai 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - 134 gene panel CTRCT FamII PubMed: Cai 2021 5-generation family, 15 affected (6F, 9M) F;M no China - - - - - 15 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 segregates with cataract (4/4 affected) PubMed: Li 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT family PubMed: Li 2020 3-generation family, 4 affected (2F, 2M) F;M no China - - - - - 4 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Ma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT Fam3 PubMed: Ma 2018 - - - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Yang 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - 6-gene panel CTRCT FamZXM PubMed: Yang 2016 5-generation family, 9 affected (5F, 4M) F;M no China - - - - - 9 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Parent #1 - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Yang 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - 6-gene panel CTRCT FamXLB PubMed: Yang 2016 3-generation family, 5 affected (3F, 2M) F;M no China - - - - - 5 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Maternal (confirmed) - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Mackay 2014 - rs28931605 Germline yes - - - - DNA SEQ, SEQ-NG - 39-gene panel CTRCT FamA PubMed: Mackay 2014 2-generation family, affected mother/daughter/son F;M - United States white - - - - 3 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam18Pat21902 PubMed: Guo 2025 family, several affected F - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown - pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam18Pat21903 PubMed: Guo 2025 relative M - China - - - - - 1 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown ACMG pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PS4, PM2_sup, PP1_strong, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat23 PubMed: Wang 2024 family F - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown ACMG pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PS4, PM2_sup, PP1_strong, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat24 PubMed: Wang 2024 family F - China - - - - - 2 Johan den Dunnen
+/. - c.70C>A r.(?) p.(Pro24Thr) Unknown ACMG pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PS4, PM2_sup, PP1_strong, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat25 PubMed: Wang 2024 family F - China - - - - - 2 Johan den Dunnen
+?/. - c.70C>A r.(?) p.(Pro24Thr) Unknown ACMG likely pathogenic (dominant) g.208989018G>T g.208124294G>T - - CRYGD_000002 ACMG PM1_P, PM2_P, PM5_P, PM6_M, PP5_P PubMed: Lecca 2024 16940 - De novo - - - - - DNA SEQ, SEQ-NG - WES SPG FamFPat13 PubMed: Lecca 2024 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy - - - - - 1 Johan den Dunnen
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Amino acid numbering includes the N-terminal methionine as number 1. Most annotations of CRYGD are numbered from Gly at position 2, corresponding to the processed N-terminal methionine-lacking CRYGD-protein


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