Full data view for gene POMGNT1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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     
+?/. 4 c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R - POMGNT1_000256 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F17-II-4 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. 4 c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R - POMGNT1_000256 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F18-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-01 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-03 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-04 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-05 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-01 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-04 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-08 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-12 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-13 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-15 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-02 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-03 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-05 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F04-01 PubMed: Wang 2016 family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F04-03 PubMed: Wang 2016 family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F05-01 PubMed: Wang 2016 family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F05-05 PubMed: Wang 2016 family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
Legend   How to query  


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