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.

42 entries on 1 page. Showing entries 1 - 42.
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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.-5C>G r.(?) p.(=) Unknown - likely benign g.2097829G>C g.2047828G>C - - NTHL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2G>A r.(?) p.(=) Unknown - VUS g.2097826C>T g.2047825C>T NTHL1(NM_001318193.1):c.23G>A (p.(Gly8Asp)) - NTHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44T>C r.(?) p.(Leu15Pro) Unknown - likely benign g.2097781A>G g.2047780A>G NTHL1(NM_002528.7):c.44T>C (p.L15P) - NTHL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - VUS g.2097712G>A g.2047711G>A NM_002528.5:c.137C>T (Ala46Val) - NTHL1_000035 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - FAP P10-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - F - - - - - - - 1 Flavie Boulouard
+?/. - c.115+1G>A r.(?) p.? Unknown - likely pathogenic g.2097709C>T g.2047708C>T NM_002528.5:c.139+1G>A - NTHL1_000034 - 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.115+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.2097709C>T g.2047708C>T NM_002528.5:c.139+1G>A - NTHL1_000034 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ - - meningioma P1-2 PubMed: Boulouard 2021, Journal: Boulouard 2021 sister F - France - - - - - 1 Flavie Boulouard
+/. - c.115+1G>A r.spl? p.? Unknown - pathogenic g.2097709C>T g.2047708C>T NTHL1(NM_002528.7):c.115+1G>A - NTHL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.115+1G>A r.spl? p.? Unknown - pathogenic g.2097709C>T g.2047708C>T NTHL1(NM_002528.7):c.115+1G>A - NTHL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146G>A r.(?) p.(Arg49His) Unknown - VUS g.2096337C>T g.2046336C>T NTHL1(NM_002528.5):c.170G>A (p.(Arg57His)) - NTHL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220C>T r.(?) p.(Leu74Phe) Unknown ACMG pathogenic (recessive) g.2096263G>A g.2046262G>A NM_002528.5:c.244C>T (Leu82Phe) - NTHL1_000038 ACMG: PVS1, PS4_MOD; PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - SWNTS 176731 - - M ? - - - - - - 1 Andreas Laner
+/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274C>T r.(?) p.(Arg92Cys) Parent #1 - VUS g.2096209G>A g.2046208G>A NM_002528.5:c.298C>T (Arg100Cys) - NTHL1_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148104494 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.349C>T r.(?) p.(Pro117Ser) Unknown - VUS g.2096134G>A g.2046133G>A NM_002528.5:c.373C>T (Pro125Ser) - NTHL1_000033 - 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.503T>C r.(?) p.(Ile168Thr) Unknown - VUS g.2094653A>G g.2044652A>G NM_002528.5:c.527T>C (Ile176Thr) - NTHL1_000012 - - - rs1805378 Germline - - - - - DNA SEQ - - FAP - - - ? ? Spain - 56y - - - 1 Mariona Terradas
?/. - c.503T>C r.(?) p.(Ile168Thr) Both (homozygous) - VUS g.2094653A>G g.2044652A>G NM_002528.5:c.527T>C (Ile176Thr) - NTHL1_000012 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer, prostate P9-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
?/. - c.503T>C r.(?) p.(Ile168Thr) Unknown - VUS g.2094653A>G g.2044652A>G NM_002528.5:c.527T>C (Ile176Thr) - NTHL1_000012 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - FAP P10-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - F - - - - - - - 1 Flavie Boulouard
?/. - c.503T>C r.(?) p.(Ile168Thr) Both (homozygous) - VUS g.2094653A>G g.2044652A>G NM_002528.5:c.527T>C (Ile176Thr) - NTHL1_000012 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - cancer, endometrial P12-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - F - France - - - - - 1 Flavie Boulouard
-?/. - c.525+29G>A r.(=) p.(=) Unknown - likely benign g.2094602C>T g.2044601C>T NTHL1(NM_002528.7):c.525+29G>A - NTHL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.526-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.2093728C>T g.2043727C>T NM_002528.5:c.550-1G>A - NTHL1_000032 Patient with two pathogenic or probably pathogenic NTHL1 variants (compound heterozygous) His childs carrying only one of the two variants 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.526-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.2093728C>T g.2043727C>T NM_002528.5:c.550-1G>A - NTHL1_000032 - 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.526-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.2093728C>T g.2043727C>T NM_002528.5:c.550-1G>A - NTHL1_000032 - 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.526-1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.2093728C>T g.2043727C>T NM_002528.5:c.550-1G>A - NTHL1_000032 - PubMed: Boulouard 2021, Journal: Boulouard 2021 - - Germline - - - - - DNA SEQ-NG - - polyposis P7-1 PubMed: Boulouard 2021, Journal: Boulouard 2021 - M - France - - - - - 1 Flavie Boulouard
-?/. - c.555C>T r.(?) p.(Ser185=) Unknown - likely benign g.2093698G>A g.2043697G>A NTHL1(NM_002528.7):c.555C>T (p.S185=) - NTHL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.2093567C>T g.2043566C>T NM_002528.5:c.709+1G>A - NTHL1_000043 - PubMed: Rivera 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - FAP patient PubMed: Rivera 2015 - F - Canada Germany - - - - 1 Johan den Dunnen
?/. - c.748T>A r.(?) p.(Ser250Thr) Unknown - VUS g.2090177A>T g.2040176A>T NTHL1(NM_001318193.1):c.601T>A (p.(Ser201Thr)) - NTHL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791+5G>A r.spl? p.? Unknown - VUS g.2090129C>T g.2040128C>T - - NTHL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.791+10T>G r.(=) p.(=) Unknown - likely benign g.2090124A>C - NTHL1(NM_002528.5):c.815+10T>G (p.(=)) - chr16_007534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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