Unique variants in the PFKFB4 gene

Information The variants shown are described using the NM_004567.2 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     
+/. 2 - c.-8859C>T r.(?) p.(=) - pathogenic g.48603069G>A g.48565636G>A COL7A1(NM_000094.3):c.8440C>T (p.R2814*) - COL7A1_000063, COL7A1_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.-8688C>T r.(?) p.(=) - benign g.48602898G>A g.48565465G>A - - COL7A1_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-8654G>A r.(?) p.(=) - VUS g.48602864C>T g.48565431C>T COL7A1(NM_000094.3):c.8506G>A (p.V2836I) - COL7A1_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-8636_-8623del r.(?) p.(=) - VUS g.48602835_48602848del - COL7A1(NM_000094.3):c.8524_8527+10delGAAGGTGAGGACAG - COL7A1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-8412C>G r.(?) p.(=) - likely benign g.48602622G>C g.48565189G>C COL7A1(NM_000094.3):c.8540C>G (p.(Pro2847Arg)) - COL7A1_000540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.-8368G>T r.(?) p.(=) - pathogenic g.48602578C>A g.48565145C>A - - COL7A1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8314_-8313insGCC r.(?) p.(=) - likely benign g.48602524_48602525insGCG g.48565091_48565092insGCG COL7A1(NM_000094.3):c.8620+17delGinsGCGC, COL7A1(NM_000094.3):c.8620+18_8620+19insGCC - COL7A1_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.-8197G>C r.(?) p.(=) - likely pathogenic g.48602407C>G g.48564974C>G - - COL7A1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-8060C>T r.(?) p.(=) - VUS g.48602270G>A - COL7A1(NM_000094.3):c.8764C>T (p.R2922C) - COL7A1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-8045C>T r.(?) p.(=) - VUS g.48602255G>A g.48564822G>A COL7A1(NM_000094.3):c.8779C>T (p.R2927C) - COL7A1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-8033C>T r.(?) p.(=) - likely benign g.48602243G>A g.48564810G>A COL7A1(NM_000094.3):c.8791C>T (p.P2931S) - COL7A1_000567 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-7564T>C r.(?) p.(=) - benign g.48601774A>G g.48564341A>G - - COL7A1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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