Full data view for gene NHP2

Information The variants shown are described using the NM_017838.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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.25G>A r.(?) p.(Asp9Asn) Unknown - likely benign g.177580794C>T - NHP2(NM_017838.3):c.25G>A (p.(Asp9Asn)) - NHP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70T>A r.(?) p.(Tyr24Asn) Unknown - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.70T>A r.(?) p.(Tyr24Asn) Unknown - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.70T>A r.(?) p.(Tyr24Asn) Unknown - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.72C>T r.(?) p.(Tyr24=) Unknown - likely benign g.177580747G>A - NHP2(NM_017838.3):c.72C>T (p.Y24=) - NHP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely benign g.177580722G>A - NHP2(NM_017838.3):c.97C>T (p.P33S) - NHP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105G>A r.(?) p.(Ala35=) Unknown - likely benign g.177580714C>T g.178153713C>T NHP2(NM_017838.3):c.105G>A (p.A35=) - NHP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105G>A r.(?) p.(Ala35=) Unknown - likely benign g.177580714C>T - NHP2(NM_017838.3):c.105G>A (p.A35=) - NHP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+10A>T r.(=) p.(=) Unknown - likely benign g.177580649T>A g.178153648T>A NHP2(NM_017838.3):c.160+10A>T - NHP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+10A>T r.(=) p.(=) Unknown - likely benign g.177580649T>A g.178153648T>A NHP2(NM_017838.3):c.160+10A>T - NHP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+11C>T r.(=) p.(=) Unknown - likely benign g.177580648G>A g.178153647G>A NHP2(NM_017838.3):c.160+11C>T - NHP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+16G>C r.(=) p.(=) Unknown - likely benign g.177580643C>G g.178153642C>G - - NHP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.160+18G>T r.(?) p.(=) Parent #1 - benign g.177580641C>A g.178153640C>A - - NHP2_000005 all heterozygotes PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 3/117 cases - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.160+43_161-39dup r.(?) p.(=) Parent #1 - benign g.177580619_177580635dup g.178153618_178153634dup c.160+43_59dup - NHP2_000006 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 cases - - - - - - - - - - - - - - - - - - - - -
?/. - c.190G>A r.(?) p.(Val64Met) Unknown - VUS g.177580532C>T - NHP2(NM_017838.3):c.190G>A (p.(Val64Met)) - NHP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.231-35C>T r.(?) p.(=) Parent #1 - benign g.177578029G>A g.178151028G>A - - NHP2_000007 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 cases - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231-17_231-16del r.(=) p.(=) Unknown - likely benign g.177578012_177578013del - NHP2(NM_017838.3):c.231-17_231-16delGT - NHP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263T>C r.(?) p.(Ile88Thr) Unknown - VUS g.177577962A>G - NHP2(NM_017838.3):c.263T>C (p.I88T) - NHP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302G>A r.(?) p.(Arg101Gln) Unknown - likely benign g.177577923C>T g.178150922C>T NHP2(NM_017838.3):c.302G>A (p.(Arg101Gln)) - NHP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311C>T r.(?) p.(Pro104Leu) Unknown - VUS g.177577914G>A - - - NHP2_000018 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+?/. - c.327del r.(?) p.(Ser110Leufs*17) Unknown - likely pathogenic g.177577901del - NHP2(NM_017838.3):c.327delC (p.S110Lfs*17) - NHP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.336+20del r.(=) p.(=) Parent #1 - benign g.177577873del g.178150872del - - NHP2_000008 all heterozygotes PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 3/117 cases - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336+20del r.(=) p.(=) Unknown - likely benign g.177577873del - NHP2(NM_017838.3):c.336+20delC - NHP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337-14T>C r.(=) p.(=) Unknown - likely benign g.177576853A>G - NHP2(NM_017838.3):c.337-14T>C - NHP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351C>T r.(?) p.(Ala117=) Unknown - benign g.177576825G>A - NHP2(NM_017838.3):c.351C>T (p.A117=) - NHP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.352G>A r.(?) p.(Ala118Thr) Parent #1 - benign g.177576824C>T g.178149823C>T - - NHP2_000004 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 controls - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.376G>A r.(?) p.(Val126Met) Maternal (confirmed) - pathogenic g.177576800C>T g.178149799C>T - - NHP2_000002 short telomeres, low TERC levels PubMed: Vulliamy 2008, Journal: Vulliamy 2008, OMIM:var0002 - rs121908090 Germline yes 1/117 cases - - - DNA SEQ - - DKCB2 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - >12y - - - 1 Johan den Dunnen
+/. 4 c.415T>C r.(?) p.(Tyr139His) Both (homozygous) - pathogenic g.177576761A>G g.178149760A>G - - NHP2_000001 short telomeres, low TERC levels PubMed: Vulliamy 2008, Journal: Vulliamy 2008, OMIM:var0001 - rs121908089 Germline yes 1/117 cases - - - DNA SEQ - - DKCB2 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - - - - - 1 Johan den Dunnen
-?/. - c.417C>T r.(?) p.(=) Unknown - likely benign g.177576759G>A - NHP2(NM_017838.3):c.417C>T (p.Y139=) - NHP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.460T>A r.(?) p.(*154Argext*51) Paternal (confirmed) - pathogenic g.177576716A>T g.178149715A>T p.X154ArgextX*52 - NHP2_000003 short telomeres, low TERC levels PubMed: Vulliamy 2008, Journal: Vulliamy 2008, OMIM:var0003 - rs121908091 Germline yes 1/117 cases - - - DNA SEQ - - DKCB2 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - >12y - - - 1 Johan den Dunnen
?/. - c.*2079G>A r.(=) p.(=) Unknown - VUS g.177574635C>T g.178147634C>T RMND5B(NM_022762.3):c.962C>T (p.(Pro321Leu)) - NHP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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