Full data view for gene GDPD1

Information The variants shown are described using the NM_182569.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK1 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 8-generation family, 51 affected (29F, 22M) F;M - United Kingdom (Great Britain) - - - - - 51 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK2 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 7 affected (6F, M) F;M - United Kingdom (Great Britain) - - - - - 7 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK3 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 4 affected (2F, 2M) F;M - United Kingdom (Great Britain) - - - - - 4 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK4 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 4 affected (3F, M) F;M - United Kingdom (Great Britain) - - - - - 4 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK5 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 8 affected (3F, 5M) F;M - United Kingdom (Great Britain) - - - - - 8 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK6 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 7-generation family, 10 affected (6F, 4M) F;M - United Kingdom (Great Britain) - - - - - 10 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK7 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - - - - - 2 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK8 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 2-generation family, affected father and son M - United Kingdom (Great Britain) - - - - - 2 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK9 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 10 affected (9F, M) F;M - United Kingdom (Great Britain) - - - - - 10 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK10 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 5 affected (3F, 2M) F;M - United Kingdom (Great Britain) - - - - - 5 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK11 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 5 affected (5F) F - United Kingdom (Great Britain) - - - - - 5 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK12 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 7 affected (3F, 4M) F;M - United Kingdom (Great Britain) - - - - - 7 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: Panneman 2023, Journal: Panneman 2023 - - Germline yes - - - - DNA MIPsm - - RP 067984 PubMed: Panneman 2023 - F - United Kingdom (Great Britain) - - - - - 1 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - Journal: de Bruijn 2024 - - Germline - - - - - DNA MIPsm, SEQ-NG-I - - RP FamAU1 Journal: de Bruijn 2024 6-generation family, 6 affected (2F, 4M) F;M - Australia - - - - - 6 Suzanne de Bruijn
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