Unique variants in the HRAS gene

Information The variants shown are described using the NM_005343.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-4217C>A r.(?) p.(=) - likely benign g.539579G>T g.539579G>T LRRC56(NM_198075.3):c.-158-1G>T (p.(=)) - C11orf35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-4216T>A r.(?) p.(=) - likely benign g.539578A>T g.539578A>T LRRC56(NM_198075.3):c.-158-2A>T (p.(=)) - C11orf35_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-4210T>A r.(?) p.(=) - likely benign g.539572A>T g.539572A>T LRRC56(NM_198075.3):c.-158-8A>T (p.(=)) - C11orf35_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-53-35_-53-24del r.(=) p.(=) - benign g.534403_534414del g.534403_534414del HRAS(NM_005343.2):c.-53-35_-53-24delGCCTGGGCCTGG - HRAS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.-10C>T r.(?) p.(=) - benign g.534332G>A g.534332G>A HRAS(NM_005343.2):c.-10C>T, HRAS(NM_176795.4):c.-10C>T - HRAS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/., +?/. 5 - c.34G>A r.(?) p.(Gly12Ser) - likely pathogenic (dominant), pathogenic g.534289C>T g.534289C>T HRAS(NM_005343.2):c.34G>A (p.G12S), HRAS(NM_176795.4):c.34G>A (p.G12S) - HRAS_000002 VKGL data sharing initiative Nederland PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Trujillano 2017 - rs104894229 CLASSIFICATION record, De novo, Germline/De novo (untested) - - - - - Johan den Dunnen, Daniel Trujillano, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 2 - c.34G>T r.(?) p.(Gly12Cys) - pathogenic g.534289C>A g.534289C>A - - HRAS_000013 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs104894229 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
+/. 1 - c.35G>A r.(?) p.(Gly12Asp) - pathogenic g.534288C>T g.534288C>T - - HRAS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 2 c.35G>C r.(?) p.(Gly12Ala) - pathogenic g.534288C>G g.534288C>G - - HRAS_000001 VKGL data sharing initiative Nederland PubMed: Trujillano 2017 - - CLASSIFICATION record, De novo - - - - - Daniel Trujillano, VKGL-NL_Nijmegen
+/. 3 - c.37G>T r.(?) p.(Gly13Cys) - pathogenic g.534286C>A g.534286C>A HRAS(NM_005343.2):c.37G>T (p.(Gly13Cys)) - HRAS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Sha Hong
+/. 2 - c.38G>A r.(?) p.(Gly13Asp) - pathogenic g.534285C>T g.534285C>T - - HRAS_000010 VKGL data sharing initiative Nederland PubMed: Lefebvre 2021 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.38G>T r.(?) p.(Gly13Val) - pathogenic g.534285C>A g.534285C>A 38G>A (Gly13Val) - HRAS_000020 - PubMed: Lefebvre 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.44G>T r.(?) p.(Gly15Val) - likely benign g.534279C>A g.534279C>A - - HRAS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.81T>C r.(?) p.(His27=) - benign g.534242A>G g.534242A>G HRAS(NM_005343.2):c.81T>C (p.H27=), HRAS(NM_176795.4):c.81T>C (p.H27=) - HRAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 3 - c.111+15G>A r.(=) p.(=) - benign g.534197C>T g.534197C>T HRAS(NM_005343.2):c.111+15G>A, HRAS(NM_176795.4):c.111+15G>A - HRAS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.182A>G r.(?) p.(Gln61Arg) - likely pathogenic g.533874T>C g.533874T>C - - C11orf35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.218G>A r.(?) p.(Arg73His) - VUS g.533838C>T - HRAS(NM_176795.4):c.218G>A (p.R73H) - C11orf35_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.357C>T r.(?) p.(Asp119=) - benign, likely benign g.533546G>A g.533546G>A HRAS(NM_001318054.1):c.38C>T (p.T13I), HRAS(NM_176795.4):c.357C>T (p.D119=) - HRAS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.374T>C r.(?) p.(Val125Ala) - VUS g.533529A>G g.533529A>G HRAS(NM_005343.2):c.374T>C (p.V125A) - HRAS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.427G>A r.(?) p.(Glu143Lys) - VUS g.533476C>T g.533476C>T - - C11orf35_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.436G>C r.(?) p.(Ala146Pro) - likely pathogenic g.533467C>G g.533467C>G - - HRAS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.450+18C>T r.(=) p.(=) - likely benign g.533435G>A g.533435G>A HRAS(NM_005343.2):c.450+18C>T - HRAS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.450+102G>A r.(=) p.(=) - likely benign g.533351C>T g.533351C>T - - C11orf35_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.450+119_450+124dup r.(=) p.(=) - likely benign g.533335_533340dup g.533335_533340dup - - C11orf35_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.450+142C>G r.(=) p.(=) - likely benign g.533311G>C g.533311G>C HRAS(NM_176795.4):c.498C>G (p.P166=) - HRAS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.450+144dup r.(=) p.(=) - VUS g.533314dup - HRAS(NM_176795.4):c.500dupC (p.P169Tfs*31) - C11orf35_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.477G>A r.(?) p.(Leu159=) - likely benign g.532729C>T g.532729C>T HRAS(NM_001130442.2):c.477G>A (p.L159=) - HRAS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.545T>C r.(?) p.(Met182Thr) - likely benign g.532661A>G g.532661A>G HRAS(NM_001130442.1):c.545T>C (p.(Met182Thr)) - C11orf35_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*218C>T r.(=) p.(=) - benign g.532310G>A g.532310G>A - - HRAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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