Unique variants in gene NRAS

Information The variants shown are described using the NM_002524.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

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     
-?/. 1 - c.-2058A>G likely benign r.(?) p.(=) g.115261319T>C - CSDE1(NM_001007553.2):c.2264A>G (p.(Asn755Ser), p.(Asn770Ser), p.(Asn801Ser), p.(Asn724Ser)) - CSDE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 2 c.34G>A - r.(?) p.(Gly12Ser) g.115258748C>T g.114716127C>T - - NRAS_000005 - - - - De novo - - - - - Christina Lissewski
+?/. 1 2 c.34G>C - r.(?) p.(Gly12Arg) g.115258748C>G g.114716127C>G - - NRAS_000008 - Altmüller et al, submitted - - De novo - - - - - Christina Lissewski
?/. 1 2 c.34G>T - r.(?) p.(Gly12Cys) g.115258748C>A g.114716127C>A - - NRAS_000003 - - - - Somatic - - - - - Phil Chambers
+?/. 2 2 c.35G>A ACMG: 4 r.(?) p.(Gly12Asp) g.115258747C>T g.114716126C>T - - NRAS_000004 - Trujillano et al., submitted, Altmüller et al, submitted - - De novo - - - - - Daniel Trujillano, Christina Lissewski
+/. 1 - c.35G>C pathogenic r.(?) p.(Gly12Ala) g.115258747C>G - NRAS(NM_002524.3):c.35G>C (p.G12A) - CSDE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 2 c.35G>T pathogenic r.(?) p.(Gly12Val) g.115258747C>A g.114716126C>A NRAS(NM_002524.3):c.35G>T (p.Gly12Val) - NRAS_000006 VKGL data sharing initiative Nederland Altmüller et al, submitted - - CLASSIFICATION record, De novo - - - - - VKGL-NL, Christina Lissewski
-?/. 1 - c.36T>G likely benign r.(?) p.(=) g.115258746A>C - NRAS(NM_002524.3):c.36T>G (p.G12=) - NRAS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 4 2 c.71T>A pathogenic r.(?) p.(Ile24Asn) g.115258711A>T g.114716090A>T NRAS(NM_002524.3):c.71T>A (p.Ile24Asn) - NRAS_000007 VKGL data sharing initiative Nederland Altmüller et al, submitted - - CLASSIFICATION record, Germline yes - - - - VKGL-NL, Christina Lissewski
-?/. 1 - c.112-8A>G likely benign r.(=) p.(=) g.115256607T>C - NRAS(NM_002524.3):c.112-8A>G - NRAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 2i_3 c.112-1_113dup - r.spl p.(Glu37dup) g.115256598_115256600dup g.114713977_114713979dup 112-1_113dupGGA - NRAS_000009 - Altmüller et al, submitted - - Germline/De novo (untested) - - - - - Christina Lissewski
+?/. 4 3 c.149C>T - r.(?) p.(Thr50Ile) g.115256562G>A g.114713941G>A - - NRAS_000012 - Altmüller et al, submitted - - Germline yes, ? - - - - Christina Lissewski
+?/. 1 3 c.173C>T - r.(?) p.(Thr58Ile) g.115256538G>A g.114713917G>A - - NRAS_000011 - Altmüller et al, submitted - - Germline ? - - - - Christina Lissewski
+?/. 5 3 c.179G>A - r.(?) p.(Gly60Glu) g.115256532C>T g.114713911C>T - - NRAS_000010 - Altmüller et al, submitted - - Germline, De novo yes - - - - Christina Lissewski
+/., ?/. 2 3 c.181C>A pathogenic r.(?) p.(Gln61Lys) g.115256530G>T g.114713909G>T NRAS(NM_002524.3):c.181C>A (p.Q61K) - NRAS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Somatic - - - - - VKGL-NL, Phil Chambers
+/. 1 - c.182A>G pathogenic r.(?) p.(Gln61Arg) g.115256529T>C - NRAS(NM_002524.4):c.182A>G (p.(Gln61Arg)) - CSDE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.182A>T - r.(?) p.(Gln61Leu) g.115256529T>A g.114713908T>A - - NRAS_000001 - - - - Somatic - - - - - Phil Chambers
-?/. 1 - c.254A>G likely benign r.(?) p.(Asn85Ser) g.115256457T>C - NRAS(NM_002524.3):c.254A>G (p.Asn85ser) - NRAS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.322G>A likely benign r.(?) p.(Asp108Asn) g.115252318C>T - NRAS(NM_002524.4):c.322G>A (p.(Asp108Asn)) - NRAS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.360G>A likely benign r.(?) p.(=) g.115252280C>T - NRAS(NM_002524.3):c.360G>A (p.L120=) - NRAS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.384A>G likely benign r.(?) p.(=) g.115252256T>C - NRAS(NM_002524.3):c.384A>G (p.=) - NRAS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.450+12C>T likely benign r.(=) p.(=) g.115252178G>A - NRAS(NM_002524.3):c.450+12C>T - NRAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*43+20G>A likely benign r.(=) p.(=) g.115250755C>T - NRAS(NM_002524.3):c.*43+20G>A - NRAS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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