Full data view for gene PTF1A

Information The variants shown are described using the NM_178161.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.8C>T r.(?) p.(Ala3Val) Unknown - likely benign g.23481467C>T g.23192538C>T PTF1A(NM_178161.3):c.8C>T (p.(Ala3Val), p.A3V) - PTF1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.23481467C>T - PTF1A(NM_178161.3):c.8C>T (p.(Ala3Val), p.A3V) - PTF1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44C>T r.(?) p.(Ala15Val) Unknown - likely benign g.23481503C>T - PTF1A(NM_178161.3):c.44C>T (p.(Ala15Val)) - PTF1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132G>T r.(?) p.(Ala44=) Unknown - likely benign g.23481591G>T - PTF1A(NM_178161.2):c.132G>T (p.A44=) - PTF1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261G>A r.(?) p.(Gly87=) Unknown - likely benign g.23481720G>A g.23192791G>A PTF1A(NM_178161.2):c.261G>A (p.G87=) - PTF1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269G>C r.(?) p.(Gly90Ala) Unknown - likely benign g.23481728G>C g.23192799G>C PTF1A(NM_178161.2):c.269G>C (p.(Gly90Ala)) - PTF1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295_297dup r.(?) p.(Gly99dup) Unknown - VUS g.23481754_23481756dup - PTF1A(NM_178161.2):c.295_297dupGGC (p.G99dup) - PTF1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462G>T r.(?) p.(Arg154=) Unknown - likely benign g.23481921G>T - PTF1A(NM_178161.2):c.462G>T (p.R154=) - PTF1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499G>A r.(?) p.(Ala167Thr) Unknown - VUS g.23481958G>A g.23193029G>A PTF1A(NM_178161.2):c.499G>A (p.A167T) - PTF1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728del r.(?) p.(Gly243Alafs*34) Unknown - VUS g.23482187del - PTF1A(NM_178161.3):c.728del (p.(Gly243Alafs*34)) - PTF1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.787T>C r.(?) p.(Ser263Pro) Unknown - benign g.23482635T>C g.23193706T>C PTF1A(NM_178161.3):c.787T>C (p.S263P) - PTF1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851C>A r.(?) p.(Thr284Asn) Unknown - VUS g.23482699C>A - PTF1A(NM_178161.3):c.851C>A (p.(Thr284Asn)) - PTF1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968dup r.(?) p.(Phe324IlefsTer2) Unknown - VUS g.23482816dup g.23193887dup PTF1A(NM_178161.2):c.968dupC (p.F324Ifs*2) - PTF1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2_ c.*19581_*27196del r.0? p.0? Both (homozygous) - pathogenic g.23502416_23510031del g.23213487_23221102del chr10:23502416-23510031del - PTF1A_000002 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA PCR, SEQ - - PACA - PubMed: Weedon 2014 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs F;M yes - Arabic - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25470A>G r.0? p.0? Both (homozygous) - pathogenic g.23508305A>G g.23219376A>G 305A>G - PTF1A_000004 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Costa Rica Costa Rican - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25528A>G r.0? p.0? Both (homozygous) - pathogenic g.23508363A>G g.23219434A>G 363A>G - PTF1A_000003 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25530A>G r.0? p.0? Paternal (confirmed) - pathogenic g.23508365A>G g.23219436A>G 365A>G - PTF1A_000005 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany German - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents/sib, sister of 24212882-Fam1PatII4/6 F yes Syria Syria - - - - 3 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 - F yes Syria Syria - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 - F yes Syria Syria - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 2 affected brothers, unaffected parents M yes Lebanon Lebanese - - - - 2 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 2 affecteds (father/son), unaffected heterozygous carrier parents, son of 24212882Fam3PatII3 M yes - Kurdish - - - - 2 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 father M yes - Kurdish - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25602A>G r.0? p.0? Both (homozygous) - pathogenic g.23508437A>G g.23219508A>G 437A>G - PTF1A_000001 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. 2_ c.*25611A>C r.0? p.0? Maternal (confirmed) - pathogenic g.23508446A>C g.23219517A>C 446A>C - PTF1A_000006 abolished enhancer activity PubMed: Weedon 2014 - - Germline yes - - - - DNA SEQ - - PACA - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany German - - - - 1 Marianne Vos (LOVD-team)
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