All variants in the NHP2 gene

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.25G>A r.(?) p.(Asp9Asn) - likely benign g.177580794C>T - NHP2(NM_017838.3):c.25G>A (p.(Asp9Asn)) - NHP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.70T>A r.(?) p.(Tyr24Asn) - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.70T>A r.(?) p.(Tyr24Asn) - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.70T>A r.(?) p.(Tyr24Asn) - VUS g.177580749A>T - - - NHP2_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.72C>T r.(?) p.(Tyr24=) - likely benign g.177580747G>A - NHP2(NM_017838.3):c.72C>T (p.Y24=) - NHP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.97C>T r.(?) p.(Pro33Ser) - likely benign g.177580722G>A - NHP2(NM_017838.3):c.97C>T (p.P33S) - NHP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.105G>A r.(?) p.(Ala35=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.105G>A r.(?) p.(Ala35=) - likely benign g.177580714C>T - NHP2(NM_017838.3):c.105G>A (p.A35=) - NHP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.160+10A>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.160+10A>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.160+11C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.160+16G>C r.(=) p.(=) - likely benign g.177580643C>G g.178153642C>G - - NHP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1i c.160+18G>T r.(?) p.(=) - benign g.177580641C>A g.178153640C>A - - NHP2_000005 all heterozygotes PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 3/117 cases - - - Johan den Dunnen
-/. 1i c.160+43_161-39dup r.(?) p.(=) - benign g.177580619_177580635dup g.178153618_178153634dup c.160+43_59dup - NHP2_000006 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 cases - - - Johan den Dunnen
?/. - c.190G>A r.(?) p.(Val64Met) - VUS g.177580532C>T - NHP2(NM_017838.3):c.190G>A (p.(Val64Met)) - NHP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2i c.231-35C>T r.(?) p.(=) - benign g.177578029G>A g.178151028G>A - - NHP2_000007 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 cases - - - Johan den Dunnen
-?/. - c.231-17_231-16del r.(=) p.(=) - likely benign g.177578012_177578013del - NHP2(NM_017838.3):c.231-17_231-16delGT - NHP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.263T>C r.(?) p.(Ile88Thr) - VUS g.177577962A>G - NHP2(NM_017838.3):c.263T>C (p.I88T) - NHP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.302G>A r.(?) p.(Arg101Gln) - 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 - - - - - VKGL-NL_Leiden
?/. - c.311C>T r.(?) p.(Pro104Leu) - VUS g.177577914G>A - - - NHP2_000018 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
+?/. - c.327del r.(?) p.(Ser110Leufs*17) - likely pathogenic g.177577901del - NHP2(NM_017838.3):c.327delC (p.S110Lfs*17) - NHP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3i c.336+20del r.(=) p.(=) - benign g.177577873del g.178150872del - - NHP2_000008 all heterozygotes PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 3/117 cases - - - Johan den Dunnen
-?/. - c.336+20del r.(=) p.(=) - likely benign g.177577873del - NHP2(NM_017838.3):c.336+20delC - NHP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.337-14T>C r.(=) p.(=) - likely benign g.177576853A>G - NHP2(NM_017838.3):c.337-14T>C - NHP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.351C>T r.(?) p.(Ala117=) - benign g.177576825G>A - NHP2(NM_017838.3):c.351C>T (p.A117=) - NHP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 4 c.352G>A r.(?) p.(Ala118Thr) - benign g.177576824C>T g.178149823C>T - - NHP2_000004 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 - - Germline - 1/117 controls - - - Johan den Dunnen
+/. 4 c.376G>A r.(?) p.(Val126Met) - 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 - - - Johan den Dunnen
+/. 4 c.415T>C r.(?) p.(Tyr139His) - 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 - - - Johan den Dunnen
-?/. - c.417C>T r.(?) p.(=) - likely benign g.177576759G>A - NHP2(NM_017838.3):c.417C>T (p.Y139=) - NHP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 4 c.460T>A r.(?) p.(*154Argext*51) - 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 - - - Johan den Dunnen
?/. - c.*2079G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
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