Full data view for gene PROC

Information The variants shown are described using the NM_000312.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-50A>T r.(?) p.(=) Unknown - benign g.128176040A>T g.127418464A>T PROC(NM_000312.4):c.-50A>T - PROC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-50A>T r.(?) p.(=) Unknown - benign g.128176040A>T g.127418464A>T PROC(NM_000312.4):c.-50A>T - PROC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21-72G>A r.(=) p.(=) Unknown - VUS g.128177426G>A - PROC(NM_001375602.1):c.91G>A (p.(Ala31Thr)) - PROC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.125G>A r.(?) p.(Arg42His) Unknown - likely pathogenic g.128178913G>A g.127421337G>A - - PROC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127G>A r.(?) p.(Ala43Thr) Unknown - VUS g.128178915G>A - PROC(NM_000312.4):c.127G>A (p.(Ala43Thr)) - PROC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.274T>C r.(?) p.(Cys92Arg) Unknown - likely pathogenic g.128180621T>C - PROC(NM_000312.3):c.274T>C (p.(Cys92Arg)) - PROC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340G>C r.(?) p.(Gly114Arg) Unknown - VUS g.128180687G>C - - - PROC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423G>T r.(?) p.(Ser141=) Unknown - benign g.128180872G>T g.127423296G>T PROC(NM_000312.4):c.423G>T (p.S141=) - PROC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423G>T r.(?) p.(Ser141=) Unknown - benign g.128180872G>T g.127423296G>T PROC(NM_000312.4):c.423G>T (p.S141=) - PROC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440G>A r.(?) p.(Cys147Tyr) Unknown - pathogenic g.128180889G>A g.127423313G>A - - PROC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441C>A r.(?) p.(Cys147*) Unknown - pathogenic g.128180890C>A - PROC(NM_000312.4):c.441C>A (p.C147*) - PROC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441C>A r.(?) p.(Cys147*) Unknown - pathogenic g.128180890C>A - PROC(NM_000312.4):c.441C>A (p.C147*) - PROC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.520C>T r.(?) p.(Gln174Ter) Unknown - pathogenic g.128180969C>T g.127423393C>T - - PROC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.565C>T r.(?) p.(Arg189Trp) Unknown - likely benign g.128183690C>T g.127426114C>T - - PROC_000014 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.027 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. - c.565C>T r.(?) p.(Arg189Trp) Unknown - pathogenic g.128183690C>T - - - PROC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.595C>T r.(?) p.(Arg199*) Unknown - pathogenic g.128183720C>T - PROC(NM_000312.4):c.595C>T (p.R199*) - PROC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic g.128183783C>T g.127426207C>T - - PROC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown ACMG likely pathogenic (dominant) g.128183783C>T - - - PROC_000010 ACMG: PM1, PM5, PS4_SUP, PM2_SUP PMID: 31254973, 22545135, 28607330, 21621249 - - Germline ? - - - - DNA SEQ-NG-I - - THPH3 179584 - - F ? Germany - - - - - 1 Andreas Laner
+?/. - c.659G>A r.(?) p.(Arg220Gln) Unknown - likely pathogenic g.128183784G>A g.127426208G>A - - PROC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692A>C r.(?) p.(Asp231Ala) Unknown - VUS g.128184694A>C - PROC(NM_000312.3):c.692A>C (p.(Asp231Ala)) - PROC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.768T>C r.(?) p.(Asp256=) Unknown - benign g.128184770T>C g.127427194T>C - - PROC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.811C>T r.(?) p.(Arg271Trp) Unknown - pathogenic g.128185947C>T - - - PROC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.814C>T r.(?) p.(Arg272Cys) Parent #1 - likely pathogenic g.128185950C>T g.127428374C>T - - PROC_000012 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918154 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - pathogenic g.128185950C>T - PROC(NM_000312.4):c.814C>T (p.(Arg272Cys)) - PROC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814C>T r.(?) p.(Arg272Cys) Unknown - pathogenic g.128185950C>T - PROC(NM_000312.4):c.814C>T (p.(Arg272Cys)) - PROC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.872A>T r.(?) p.(Tyr291Phe) Unknown - VUS g.128186008A>T g.127428432A>T PROC(NM_000312.3):c.872A>T (p.Y291F) - PROC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.901G>A r.(?) p.(Ala301Thr) Unknown - pathogenic g.128186037G>A g.127428461G>A - - PROC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.128186178C>T g.127428602C>T PROC(NM_000312.4):c.1042C>T (p.R348*) - PROC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Arg348Ter) Unknown - pathogenic g.128186178C>T g.127428602C>T PROC(NM_000312.4):c.1042C>T (p.R348*) - PROC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1107G>A r.(?) p.(Pro369=) Unknown - benign g.128186243G>A - - - PROC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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