Full data view for gene ZNF674

Information The variants shown are described using the NM_001039891.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

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.16-1461C>A r.(=) p.(=) Maternal (inferred) - VUS g.46389805G>T g.46530370G>T - - ZNF674_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-1461C>A r.(=) p.(=) Maternal (inferred) - VUS g.46389805G>T g.46530370G>T - - ZNF674_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-759del r.(=) p.(=) Unknown - VUS g.46389103del g.46529668del - - ZNF674_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-312G>A r.(=) p.(=) Maternal (inferred) - VUS g.46388656C>T g.46529221C>T - - ZNF674_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-312G>A r.(=) p.(=) Maternal (inferred) - VUS g.46388656C>T g.46529221C>T - - ZNF674_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-114A>C r.(=) p.(=) Maternal (inferred) - VUS g.46388458T>G g.46529023T>G - - ZNF674_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-114A>C r.(=) p.(=) Maternal (inferred) - VUS g.46388458T>G g.46529023T>G - - ZNF674_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-98C>T r.(=) p.(=) Maternal (inferred) - VUS g.46388442G>A g.46529007G>A - - ZNF674_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.16-98C>T r.(=) p.(=) Maternal (inferred) - VUS g.46388442G>A g.46529007G>A - - ZNF674_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.37G>A r.(?) p.(Val13Met) Unknown - VUS g.46388323C>T - ZNF674(NM_001190417.2):c.37G>A (p.(Val13Met)) - ZNF674_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74T>G r.(?) p.(Leu25Arg) Unknown - likely benign g.46388286A>C g.46528851A>C ZNF674(NM_001039891.2):c.74T>G (p.L25R) - ZNF674_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143-41C>T r.(=) p.(=) Maternal (inferred) - VUS g.46387921G>A g.46528486G>A - - ZNF674_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.143-41C>T r.(=) p.(=) Maternal (inferred) - VUS g.46387921G>A g.46528486G>A - - ZNF674_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.192C>G r.(?) p.(Asp64Glu) Unknown - likely benign g.46387831G>C - ZNF674(NM_001039891.2):c.192C>G (p.D64E) - ZNF674_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271G>A r.(?) p.(Glu91Lys) Unknown - likely benign g.46360753C>T g.46501318C>T ZNF674(NM_001039891.2):c.271G>A (p.E91K) - ZNF674_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.601C>T r.(?) p.(Arg201*) Maternal (confirmed) - pathogenic g.46360423G>A g.46500988G>A C601T - ZNF674_000019 variant not associated to a phenotype PubMed: Calvel 2015 - - Germline - - - - - DNA SEQ-NG - - ?, WDSTS - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - 2 Guorui Hu
-?/. - c.601C>T r.(?) p.(Arg201Ter) Unknown - likely benign g.46360423G>A g.46500988G>A ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*) - ZNF674_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601C>T r.(?) p.(Arg201Ter) Unknown - likely benign g.46360423G>A g.46500988G>A ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*) - ZNF674_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601C>T r.(?) p.(Arg201Ter) Unknown - likely benign g.46360423G>A - ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*) - ZNF674_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677G>A r.(?) p.(Cys226Tyr) Unknown - VUS g.46360347C>T g.46500912C>T ZNF674(NM_001039891.2):c.677G>A (p.C226Y) - ZNF674_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707A>G r.(?) p.(Lys236Arg) Unknown - VUS g.46360317T>C g.46500882T>C ZNF674(NM_001039891.2):c.707A>G (p.K236R, p.(Lys236Arg)) - ZNF674_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707A>G r.(?) p.(Lys236Arg) Unknown - likely benign g.46360317T>C g.46500882T>C ZNF674(NM_001039891.2):c.707A>G (p.K236R, p.(Lys236Arg)) - ZNF674_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721G>C r.(?) p.(Val241Leu) Unknown - VUS g.46360303C>G g.46500868C>G ZNF674(NM_001039891.2):c.721G>C (p.V241L) - ZNF674_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741C>T r.(?) p.(Thr247=) Unknown - likely benign g.46360283G>A g.46500848G>A ZNF674(NM_001039891.2):c.741C>T (p.T247=) - ZNF674_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>T r.(?) p.(Arg300Ter) Unknown - likely benign g.46360126G>A g.46500691G>A ZNF674(NM_001039891.2):c.898C>T (p.(Arg300Ter)) - ZNF674_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>A r.(?) p.(Arg300Gln) Unknown - VUS g.46360125C>T g.46500690C>T ZNF674(NM_001039891.2):c.899G>A (p.R300Q, p.(Arg300Gln)) - ZNF674_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.899G>A r.(?) p.(Arg300Gln) Unknown - benign g.46360125C>T g.46500690C>T ZNF674(NM_001039891.2):c.899G>A (p.R300Q, p.(Arg300Gln)) - ZNF674_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.899G>A r.(?) p.(Arg300Gln) Parent #1 - benign g.46360125C>T g.46500690C>T - - ZNF674_000022 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187237351 Germline - 0/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - - Mohammed Faruq
-/. - c.899G>A r.(?) p.(Arg300Gln) Unknown - benign g.46360125C>T g.46500690C>T - - ZNF674_000022 no heterozygous ; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187237351 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.986C>T r.(?) p.(Thr329Ile) Unknown - likely benign g.46360038G>A g.46500603G>A ZNF674(NM_001039891.2):c.986C>T (p.T329I) - ZNF674_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1084C>A r.(?) p.(His362Asn) Unknown - likely benign g.46359940G>T g.46500505G>T ZNF674(NM_001039891.2):c.1084C>A (p.H362N, p.(His362Asn)) - ZNF674_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1084C>A r.(?) p.(His362Asn) Unknown - benign g.46359940G>T g.46500505G>T ZNF674(NM_001039891.2):c.1084C>A (p.H362N, p.(His362Asn)) - ZNF674_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A r.(?) p.(Ser393Asn) Unknown - VUS g.46359846C>T g.46500411C>T ZNF674(NM_001039891.2):c.1178G>A (p.S393N) - ZNF674_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243T>A r.(?) p.(Cys415Ser) Unknown - likely benign g.46359781A>T g.46500346A>T ZNF674(NM_001039891.2):c.1243T>A (p.C415S) - ZNF674_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386G>T r.(?) p.(Met462Ile) Unknown - likely benign g.46359638C>A g.46500203C>A ZNF674(NM_001039891.3):c.1386G>T (p.M462I) - ZNF674_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460A>G r.(?) p.(His487Arg) Unknown - VUS g.46359564T>C g.46500129T>C - - ZNF674_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592G>T r.(?) p.(Gly531Val) Unknown - VUS g.46359432C>A g.46499997C>A ZNF674(NM_001039891.2):c.1592G>T (p.G531V) - ZNF674_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693A>C r.(?) p.(Lys565Gln) Unknown - likely benign g.46359331T>G - ZNF674(NM_001190417.2):c.1678A>C (p.(Lys560Gln)) - ZNF674_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*689T>G r.(=) p.(=) Maternal (inferred) - VUS g.46358589A>C g.46499154A>C - - ZNF674_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.