Full data view for gene PRDM12

Information The variants shown are described using the NM_021619.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
Legend  

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.23C>T r.(?) p.(Ala8Val) Unknown - VUS g.133540063C>T g.130664676C>T PRDM12(NM_021619.2):c.23C>T (p.A8V) - PRDM12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.172dup r.(?) p.(Ser58Lysfs*85) Both (homozygous) ACMG pathogenic g.133540212dup g.130664825dup - - PRDM12_000001 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - HSAN-8 - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
?/. - c.401A>G r.(?) p.(Asn134Ser) Unknown - VUS g.133542172A>G g.130666785A>G PRDM12(NM_021619.2):c.401A>G (p.N134S) - PRDM12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426G>A r.(?) p.(Glu142=) Unknown - likely benign g.133543556G>A g.130668169G>A PRDM12(NM_021619.2):c.426G>A (p.E142=) - PRDM12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570+14_570+17dup r.(=) p.(=) Unknown - likely benign g.133543714_133543717dup g.130668327_130668330dup PRDM12(NM_021619.2):c.570_570+1insGTGT - PRDM12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570+16_570+17dup r.(=) p.(=) Unknown - benign g.133543716_133543717dup g.130668329_130668330dup PRDM12(NM_021619.2):c.570_570+1insGT - PRDM12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.648C>T r.(?) p.(Pro216=) Unknown - benign g.133553993C>T g.130678606C>T PRDM12(NM_021619.2):c.648C>T (p.P216=) - PRDM12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>T r.(?) p.(Pro326=) Unknown - benign g.133556930C>T g.130681543C>T PRDM12(NM_021619.2):c.978C>T (p.P326=) - PRDM12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.995C>A r.(?) p.(Ala332Glu) Unknown - likely benign g.133556947C>A g.130681560C>A PRDM12(NM_021619.2):c.995C>A (p.A332E) - PRDM12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995C>A r.(?) p.(Ala332Glu) Unknown - VUS g.133556947C>A g.130681560C>A PRDM12(NM_021619.2):c.995C>A (p.A332E) - PRDM12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1059_1076del r.(?) p.(Ala354_Ala359del) Unknown - likely benign g.133557011_133557028del g.130681624_130681641del PRDM12(NM_021619.2):c.1041_1058del (p.(Ala354_Ala359del)), PRDM12(NM_021619.2):c.1059_1076delCGCCGCCGCCGCCGCCGC (p.A354_A359del) - PRDM12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1059_1076del r.(?) p.(Ala354_Ala359del) Unknown - likely benign g.133557011_133557028del g.130681624_130681641del PRDM12(NM_021619.2):c.1041_1058del (p.(Ala354_Ala359del)), PRDM12(NM_021619.2):c.1059_1076delCGCCGCCGCCGCCGCCGC (p.A354_A359del) - PRDM12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1068_1076del r.(?) p.(Ala357_Ala359del) Unknown - VUS g.133557020_133557028del g.130681633_130681641del PRDM12(NM_021619.2):c.1041_1049del (p.?), PRDM12(NM_021619.2):c.1068_1076delCGCCGCCGC (p.A357_A359del) - PRDM12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1068_1076del r.(?) p.(Ala357_Ala359del) Unknown - benign g.133557020_133557028del g.130681633_130681641del PRDM12(NM_021619.2):c.1041_1049del (p.?), PRDM12(NM_021619.2):c.1068_1076delCGCCGCCGC (p.A357_A359del) - PRDM12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1074_1076dup r.(?) p.(Ala359dup) Unknown - benign g.133557026_133557028dup g.130681639_130681641dup PRDM12(NM_021619.2):c.1074_1076dupCGC (p.A359dup) - PRDM12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend