Unique variants in gene NID1

Information The variants shown are described using the NM_002508.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

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     
-?/. 1 - c.159C>T r.(?) p.(Val53=) - likely benign g.236228221G>A g.236064921G>A NID1(NM_002508.2):c.159C>T (p.V53=) - NID1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.478G>A r.(?) p.(Val160Met) - likely benign g.236212037C>T g.236048737C>T NID1(NM_002508.2):c.478G>A (p.V160M) - NID1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.933G>A r.(?) p.(Thr311=) - likely benign g.236205412C>T g.236042112C>T NID1(NM_002508.2):c.933G>A (p.T311=) - NID1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1007G>A r.(?) p.(Arg336Gln) - likely benign g.236205338C>T g.236042038C>T NID1(NM_002508.2):c.1007G>A (p.R336Q) - NID1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1160G>A r.(?) p.(Arg387His) - benign g.236201529C>T g.236038229C>T NID1(NM_002508.2):c.1160G>A (p.R387H) - NID1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 ? c.1162C>T r.(?) p.(Gln388*) - pathogenic g.236201527G>A g.236038227G>A - - NID1_000001 - - - - Germline yes - - - - Benjamin Darbro
?/. 1 - c.1166C>T r.(?) p.(Thr389Met) - VUS g.236201523G>A g.236038223G>A NID1(NM_002508.2):c.1166C>T (p.T389M) - NID1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1167G>A r.(?) p.(Thr389=) - likely benign g.236201522C>T g.236038222C>T NID1(NM_002508.2):c.1167G>A (p.T389=) - NID1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1200C>T r.(?) p.(His400=) - likely benign g.236201489G>A g.236038189G>A NID1(NM_002508.2):c.1200C>T (p.H400=) - NID1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1223C>T r.(?) p.(Thr408Met) - VUS g.236201466G>A g.236038166G>A NID1(NM_002508.2):c.1223C>T (p.T408M) - NID1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1670C>T r.(?) p.(Pro557Leu) - VUS g.236192918G>A g.236029618G>A NID1(NM_002508.2):c.1670C>T (p.P557L) - NID1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1680G>A r.(?) p.(Pro560=) - likely benign g.236192908C>T g.236029608C>T NID1(NM_002508.2):c.1680G>A (p.P560=) - NID1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2126A>G r.(?) p.(Tyr709Cys) - VUS g.236187372T>C g.236024072T>C NID1(NM_002508.2):c.2126A>G (p.Y709C) - NID1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2172C>T r.(?) p.(His724=) - likely benign g.236180530G>A g.236017230G>A NID1(NM_002508.2):c.2172C>T (p.H724=) - NID1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2198C>A r.(?) p.(Thr733Asn) - VUS g.236180504G>T g.236017204G>T NID1(NM_002508.2):c.2198C>A (p.T733N) - NID1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2204G>A r.(?) p.(Arg735His) - benign g.236180498C>T g.236017198C>T NID1(NM_002508.2):c.2204G>A (p.R735H) - NID1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2247G>A r.(?) p.(Thr749=) - likely benign g.236180455C>T g.236017155C>T NID1(NM_002508.2):c.2247G>A (p.T749=) - NID1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2254+6T>C r.(=) p.(=) - VUS g.236180442A>G g.236017142A>G NID1(NM_002508.2):c.2254+6T>C - NID1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2270G>A r.(?) p.(Arg757His) - likely benign g.236176845C>T g.236013545C>T NID1(NM_002508.2):c.2270G>A (p.(Arg757His)) - NID1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2282A>G r.(?) p.(Tyr761Cys) - VUS g.236176833T>C g.236013533T>C NID1(NM_002508.2):c.2282A>G (p.Y761C) - NID1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2405-8T>C r.(=) p.(=) - likely benign g.236175351A>G g.236012051A>G NID1(NM_002508.2):c.2405-8T>C - NID1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2443_2457del r.(?) p.(Ala815_Asn819del) - VUS g.236175293_236175307del g.236011993_236012007del NID1(NM_002508.2):c.2443_2457delGCCTTCTGCTACAAC (p.A815_N819del) - NID1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2542C>T r.(?) p.(Arg848Trp) - VUS g.236157158G>A g.235993858G>A NID1(NM_002508.2):c.2542C>T (p.R848W) - NID1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2568T>C r.(?) p.(Ile856=) - likely benign g.236157132A>G g.235993832A>G NID1(NM_002508.2):c.2568T>C (p.I856=) - NID1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2587A>G r.(?) p.(Thr863Ala) - likely benign g.236157113T>C g.235993813T>C NID1(NM_002508.2):c.2587A>G (p.T863A) - NID1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2641C>T r.(?) p.(His881Tyr) - likely benign g.236157059G>A g.235993759G>A NID1(NM_002508.2):c.2641C>T (p.H881Y) - NID1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2667C>T r.(?) p.(Cys889=) - benign g.236157033G>A g.235993733G>A NID1(NM_002508.2):c.2667C>T (p.C889=) - NID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2695G>A r.(?) p.(Val899Met) - VUS g.236157005C>T - NID1(NM_002508.2):c.2695G>A (p.V899M) - NID1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2808C>T r.(?) p.(Ala936=) - likely benign g.236154306G>A g.235991006G>A NID1(NM_002508.2):c.2808C>T (p.A936=) - NID1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2828G>C r.(?) p.(Gly943Ala) - VUS g.236154286C>G - NID1(NM_002508.2):c.2828G>C (p.G943A) - NID1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2947C>A r.(?) p.(Leu983Met) - VUS g.236148787G>T g.235985487G>T NID1(NM_002508.2):c.2947C>A (p.L983M) - NID1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3231C>A r.(?) p.(Asn1077Lys) - VUS g.236143950G>T g.235980650G>T NID1(NM_002508.2):c.3231C>A (p.N1077K) - NID1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3385+1G>A r.spl p.? - likely pathogenic (recessive) g.236143795C>T g.235980495C>T - - NID1_000019 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.3599C>T r.(?) p.(Thr1200Met) - VUS g.236142318G>A g.235979018G>A NID1(NM_002508.2):c.3599C>T (p.T1200M) - NID1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3677C>T r.(?) p.(Thr1226Ile) - benign g.236141234G>A g.235977934G>A NID1(NM_002508.2):c.3677C>T (p.T1226I) - NID1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3698G>A r.(?) p.(Arg1233His) - VUS g.236141213C>T - NID1(NM_002508.2):c.3698G>A (p.R1233H) - NID1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3709A>G r.(?) p.(Asn1237Asp) - likely benign g.236141202T>C g.235977902T>C NID1(NM_002508.2):c.3709A>G (p.N1237D) - NID1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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