All transcript variants in gene NID1

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.159C>T likely benign r.(?) p.(=) g.236228221G>A - NID1(NM_002508.2):c.159C>T (p.V53=) - NID1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.478G>A likely benign r.(?) p.(Val160Met) g.236212037C>T - NID1(NM_002508.2):c.478G>A (p.V160M) - NID1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.933G>A likely benign r.(?) p.(=) g.236205412C>T - NID1(NM_002508.2):c.933G>A (p.T311=) - NID1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1007G>A likely benign r.(?) p.(Arg336Gln) g.236205338C>T - NID1(NM_002508.2):c.1007G>A (p.R336Q) - NID1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1160G>A benign r.(?) p.(Arg387His) g.236201529C>T - NID1(NM_002508.2):c.1160G>A (p.R387H) - NID1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/? ? c.1162C>T - r.(?) p.(Gln388*) g.236201527G>A - - - NID1_000001 - - - - Germline yes - - 0 - Benjamin Darbro
?/. - c.1166C>T VUS r.(?) p.(Thr389Met) g.236201523G>A - NID1(NM_002508.2):c.1166C>T (p.T389M) - NID1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1200C>T likely benign r.(?) p.(=) g.236201489G>A - NID1(NM_002508.2):c.1200C>T (p.H400=) - NID1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1223C>T VUS r.(?) p.(Thr408Met) g.236201466G>A - NID1(NM_002508.2):c.1223C>T (p.T408M) - NID1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1670C>T VUS r.(?) p.(Pro557Leu) g.236192918G>A - NID1(NM_002508.2):c.1670C>T (p.P557L) - NID1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2126A>G VUS r.(?) p.(Tyr709Cys) g.236187372T>C - NID1(NM_002508.2):c.2126A>G (p.Y709C) - NID1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2204G>A benign r.(?) p.(Arg735His) g.236180498C>T - NID1(NM_002508.2):c.2204G>A (p.R735H) - NID1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2247G>A likely benign r.(?) p.(=) g.236180455C>T - NID1(NM_002508.2):c.2247G>A (p.T749=) - NID1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2270G>A likely benign r.(?) p.(Arg757His) g.236176845C>T - NID1(NM_002508.2):c.2270G>A (p.(Arg757His)) - NID1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2282A>G VUS r.(?) p.(Tyr761Cys) g.236176833T>C - NID1(NM_002508.2):c.2282A>G (p.Y761C) - NID1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2405-8T>C likely benign r.(=) p.(=) g.236175351A>G - NID1(NM_002508.2):c.2405-8T>C - NID1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2568T>C likely benign r.(?) p.(=) g.236157132A>G - NID1(NM_002508.2):c.2568T>C (p.I856=) - NID1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2667C>T benign r.(?) p.(=) g.236157033G>A - NID1(NM_002508.2):c.2667C>T (p.C889=) - NID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2808C>T likely benign r.(?) p.(=) g.236154306G>A - NID1(NM_002508.2):c.2808C>T (p.A936=) - NID1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2908A>G likely benign r.(?) p.(Lys970Glu) g.236154206T>C - NID1(NM_002508.2):c.2908A>G (p.(Lys970Glu)) - NID1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2947C>A VUS r.(?) p.(Leu983Met) g.236148787G>T - NID1(NM_002508.2):c.2947C>A (p.L983M) - NID1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3231C>A VUS r.(?) p.(Asn1077Lys) g.236143950G>T - NID1(NM_002508.2):c.3231C>A (p.N1077K) - NID1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.3385+1G>A likely pathogenic (recessive) r.spl p.? g.236143795C>T - - - NID1_000019 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.3510-4G>A likely benign r.spl? p.? g.236142411C>T - NID1(NM_002508.2):c.3510-4G>A (p.?) - NID1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3599C>T VUS r.(?) p.(Thr1200Met) g.236142318G>A - NID1(NM_002508.2):c.3599C>T (p.T1200M) - NID1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.3677C>T benign r.(?) p.(Thr1226Ile) g.236141234G>A - NID1(NM_002508.2):c.3677C>T (p.T1226I) - NID1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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