Unique variants in gene PRDM12

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.23C>T r.(?) p.(Ala8Val) - 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 - - - - - VKGL-NL_AMC
+/. 1 - c.172dup r.(?) p.(Ser58Lysfs*85) ACMG pathogenic g.133540212dup g.130664825dup - - PRDM12_000001 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
?/. 1 - c.401A>G r.(?) p.(Asn134Ser) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.426G>A r.(?) p.(Glu142=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.570+14_570+17dup r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.570+16_570+17dup r.(=) p.(=) - benign g.133543716_133543717dup g.130668329_130668330dup PRDM12(NM_021619.2):c.570_570+1insGT - PRDM12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.648C>T r.(?) p.(Pro216=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.978C>T r.(?) p.(Pro326=) - 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 - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.995C>A r.(?) p.(Ala332Glu) - likely benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.1059_1076del r.(?) p.(Ala354_Ala359del) - likely benign g.133557011_133557028del g.130681624_130681641del 1 more item - PRDM12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
?/., -/. 2 - c.1068_1076del r.(?) p.(Ala357_Ala359del) - VUS, benign g.133557020_133557028del g.130681633_130681641del 1 more item - PRDM12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.1074_1076dup r.(?) p.(Ala359dup) - 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 - - - - - VKGL-NL_AMC
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