Full data view for gene NTHL1

NOTE: the NTHL1 coding DNA reference sequence has been updated to the MANE select
NM_002528.7 transcript. As a consequence the N-terminal protein sequence has
been shortened by 8 amino acids (MCSPQESG).
Information The variants shown are described using the NM_002528.7 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Weren 2015, Journal: Weren 2015 - - Germline yes 3/48 families - - - DNA SEQ - - FAP - PubMed: Weren 2015, Journal: Weren 2015 3-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents - no Netherlands - - - - - 2 Johan den Dunnen
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Weren 2015, Journal: Weren 2015 - - Germline yes 3/48 families - - - DNA SEQ - - FAP - PubMed: Weren 2015, Journal: Weren 2015 7-generation family, 3 affecteds (sister/2 brothers), unaffected heterozygous carrier parents - yes Netherlands - - - - - 3 Johan den Dunnen
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Weren 2015, Journal: Weren 2015 - - Germline - 3/48 families - - - DNA SEQ - - FAP - PubMed: Weren 2015, Journal: Weren 2015 4-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents - no Netherlands - - - - - 2 Johan den Dunnen
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 no second variant detected in NTHL1; Weren et al. 2015. Nat Genet 47: 668; Rivera et al. 2015. N Engl J Med 373: 1985 - - rs150766139 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown ACMG pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 ACMG grading: PVS1,PM2,PP5; pancreas-ca at age 52y, mother and brother pancreatic ca; grandfather (ms) stomach-cancer; Song et al. 2015. J Clin Oncol 33: 2901; Jønson et al. 2016. Breast Cancer Res Treat 155: 215 - - rs150766139 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - polyposis P1-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 family, affected brother and sister M - France - - - - - 2 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer, colon P2-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer, pancreatic P3-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 family, 2 affected sisters F - France - - - - - 2 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ - - cancer, colon P3-2 PubMed: Boulouard 2021, Journal: Boulouard 2021 sister F - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer P4-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - F - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - polyposis P5-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer, colon P6-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Both (homozygous) - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - polyposis P8-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - polyposis P11-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
+/. - c.244C>T r.(?) p.(Gln82Ter) Parent #1 - pathogenic (recessive) g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - PubMed: Rivera 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - FAP patient PubMed: Rivera 2015 - F - Canada Germany - - - - 1 Johan den Dunnen
+/. - c.244C>T r.(?) p.(Gln82Ter) Unknown - pathogenic g.2096239G>A g.2046238G>A NM_002528.5:c.268C>T (Gln90Ter) - NTHL1_000001 - - - rs150766139 Unknown - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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