Full data view for gene RASSF1

Information The variants shown are described using the NM_001206957.1 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-5074T>G r.(?) p.(=) Unknown - pathogenic g.50382964A>C g.50345533A>C ZMYND10(NM_015896.3):c.47T>G (p.V16G) - CYB561D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5069G>T r.(?) p.(=) Unknown - VUS g.50382959C>A g.50345528C>A ZMYND10(NM_015896.3):c.52G>T (p.G18C) - CYB561D2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4700G>A r.(?) p.(=) Unknown - VUS g.50382590C>T g.50345159C>T ZMYND10(NM_015896.2):c.166G>A (p.(Glu56Lys)) - ZMYND10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3364G>A r.(?) p.(=) Unknown - likely benign g.50381254C>T g.50343823C>T ZMYND10(NM_015896.3):c.229G>A (p.A77T) - CYB561D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2729G>T r.(?) p.(=) Unknown - pathogenic g.50380619C>A g.50343188C>A ZMYND10(NM_015896.3):c.529G>T (p.E177*) - ZMYND10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2467G>A r.(?) p.(=) Unknown - likely benign g.50380357C>T g.50342926C>T ZMYND10(NM_015896.2):c.692G>A (p.(Arg231Gln)) - CYB561D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1453G>A r.(?) p.(=) Unknown - likely benign g.50379343C>T g.50341912C>T ZMYND10(NM_015896.3):c.1019G>A (p.R340Q) - RASSF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1185C>T r.(?) p.(=) Unknown - VUS g.50379075G>A g.50341644G>A ZMYND10(NM_015896.3):c.1177C>T (p.R393C) - RASSF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-264G>A r.(?) p.(=) Unknown - likely benign g.50378154C>T g.50340723C>T RASSF1(NM_007182.5):c.83G>A (p.R28H) - RASSF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-263T>A r.(?) p.(=) Unknown - benign g.50378153A>T g.50340722A>T RASSF1(NM_007182.5):c.84T>A (p.R28=) - RASSF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-208G>T r.(?) p.(=) Unknown - benign g.50378098C>A g.50340667C>A RASSF1(NM_007182.5):c.139G>T (p.V47F) - RASSF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-200C>T r.(?) p.(=) Unknown - benign g.50378090G>A g.50340659G>A RASSF1(NM_007182.5):c.147C>T (p.G49=) - RASSF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-67C>G r.(?) p.(=) Unknown - benign g.50369556G>C g.50332125G>C RASSF1(NM_007182.5):c.387C>G (p.D129E) - RASSF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - likely benign g.50369184C>T g.50331753C>T RASSF1(NM_007182.5):c.566G>A (p.R189Q) - RASSF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.300C>T r.(?) p.(His100=) Unknown - benign g.50368997G>A g.50331566G>A RASSF1(NM_007182.5):c.753C>T (p.H251=) - RASSF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.307+19C>T r.(=) p.(=) Unknown - benign g.50368971G>A g.50331540G>A RASSF1(NM_007182.5):c.760+19C>T - RASSF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.423+1G>A r.spl p.? Unknown - VUS g.50368764C>T g.50331333C>T NM_170714.1:c.888+1G>A - RASSF1_000008 - PubMed: Lhota 2016 - - Germline - - - 0 - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - 0 - - 1 Zdenek Kleibl
?/. - c.449T>C r.(?) p.(Leu150Pro) Unknown - VUS g.50368133A>G g.50330702A>G - - RASSF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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