Full data view for gene DDHD1

Information The variants shown are described using the NM_001160147.1 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.136G>A r.(?) p.(Gly46Ser) Unknown - benign g.53619681C>T g.53152963C>T - - DDHD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146C>T r.(?) p.(Pro49Leu) Unknown - VUS g.53619671G>A - DDHD1(NM_001160148.1):c.146C>T (p.P49L) - DDHD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(Ala68=) Unknown - likely benign g.53619613C>T - DDHD1(NM_001160148.2):c.204G>A (p.A68=) - DDHD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.266A>G r.(?) p.(Tyr89Cys) Unknown - likely benign g.53619551T>C g.53152833T>C DDHD1(NM_001160147.1):c.266A>G (p.(Tyr89Cys)) - DDHD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273C>T r.(?) p.(Phe91=) Unknown - benign g.53619544G>A g.53152826G>A DDHD1(NM_001160148.2):c.273C>T (p.F91=) - DDHD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273C>T r.(?) p.(Phe91=) Unknown - benign g.53619544G>A g.53152826G>A DDHD1(NM_001160148.2):c.273C>T (p.F91=) - DDHD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296C>G r.(?) p.(Ser99Trp) Unknown - VUS g.53619521G>C - DDHD1(NM_001160148.1):c.296C>G (p.S99W) - DDHD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308A>G r.(?) p.(Tyr103Cys) Unknown - VUS g.53619509T>C g.53152791T>C DDHD1(NM_001160147.2):c.308A>G (p.Y103C), DDHD1(NM_001160148.1):c.308A>G (p.Y103C) - DDHD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308A>G r.(?) p.(Tyr103Cys) Unknown - VUS g.53619509T>C - DDHD1(NM_001160147.2):c.308A>G (p.Y103C), DDHD1(NM_001160148.1):c.308A>G (p.Y103C) - DDHD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317G>C r.(?) p.(Gly106Ala) Unknown - benign g.53619500C>G g.53152782C>G - - DDHD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325_336dup r.(?) p.(Gly109_Gly112dup) Unknown - likely benign g.53619483_53619494dup g.53152765_53152776dup DDHD1(NM_001160148.1):c.325_336dupGGCGGCGGCGGC (p.G109_G112dup), DDHD1(NM_001160148.2):c.325_336dupGGCGGCGGCGGC (p.G109_G112dup) - DDHD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325_336dup r.(?) p.(Gly109_Gly112dup) Unknown - likely benign g.53619483_53619494dup - DDHD1(NM_001160148.1):c.325_336dupGGCGGCGGCGGC (p.G109_G112dup), DDHD1(NM_001160148.2):c.325_336dupGGCGGCGGCGGC (p.G109_G112dup) - DDHD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328_336dup r.(?) p.(Gly110_Gly112dup) Unknown - benign g.53619486_53619494dup g.53152768_53152776dup DDHD1(NM_001160147.1):c.336_337insGGCGGCGGC (p.(Gly110_Gly112dup)), DDHD1(NM_001160148.1):c.328_336dupGGCGGCGGC (p.G110_G112dup), DDHD1(NM_0011601...) - DDHD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328_336dup r.(?) p.(Gly110_Gly112dup) Unknown - likely benign g.53619486_53619494dup g.53152768_53152776dup DDHD1(NM_001160147.1):c.336_337insGGCGGCGGC (p.(Gly110_Gly112dup)), DDHD1(NM_001160148.1):c.328_336dupGGCGGCGGC (p.G110_G112dup), DDHD1(NM_0011601...) - DDHD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328_336dup r.(?) p.(Gly110_Gly112dup) Unknown - benign g.53619486_53619494dup - DDHD1(NM_001160147.1):c.336_337insGGCGGCGGC (p.(Gly110_Gly112dup)), DDHD1(NM_001160148.1):c.328_336dupGGCGGCGGC (p.G110_G112dup), DDHD1(NM_0011601...) - DDHD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.331_336dup r.(?) p.(Gly111_Gly112dup) Unknown - benign g.53619489_53619494dup g.53152771_53152776dup DDHD1(NM_001160148.1):c.325_330dupGGCGGC (p.G111_G112dup), DDHD1(NM_001160148.1):c.331_336dupGGCGGC (p.G111_G112dup), DDHD1(NM_001160148.2):c.327_3... - DDHD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331_336dup r.(?) p.(Gly111_Gly112dup) Unknown - VUS g.53619489_53619494dup g.53152771_53152776dup DDHD1(NM_001160148.1):c.325_330dupGGCGGC (p.G111_G112dup), DDHD1(NM_001160148.1):c.331_336dupGGCGGC (p.G111_G112dup), DDHD1(NM_001160148.2):c.327_3... - DDHD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.334_335insCCGGCG r.(?) p.(Gly111_Gly112insAlaGly) Both (homozygous) - VUS g.53619487_53619488insGCGCCG g.53152769_53152770insGCGCCG - - DDHD1_000017 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - wes obesity 29311637-Fam2 PubMed: Saeed 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan Punjab - - - - 1 Johan den Dunnen
?/. - c.334_336del r.(?) p.(Gly112del) Unknown - VUS g.53619492_53619494del g.53152774_53152776del DDHD1(NM_001160148.1):c.334_336delGGC (p.G112del) - DDHD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336_337insGGCGGCGGCGGCGGC r.(?) p.(Gly112_Ser113insGlyGlyGlyGlyGly) Unknown - VUS g.53619494_53619495insCGCCGCCGCCGCCGC - DDHD1(NM_001160148.1):c.336_337insGGCGGCGGCGGCGGC (p.G112_S113insGGGGG) - DDHD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336_337insGGCGGCGGCGGCGGCGGC r.(?) p.(Gly112_Ser113insGlyGlyGlyGlyGlyGly) Unknown - VUS g.53619494_53619495insCGCCGCCGCCGCCGCCGC - DDHD1(NM_001160148.1):c.336_337insGGCGGCGGCGGCGGCGGC (p.G112_S113insGGGGGG), DDHD1(NM_001160148.2):c.336_337insGGCGGCGGCGGCGGCGGC (p.(Gly112_Ser1...)) - DDHD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336_337insGGCGGCGGCGGCGGCGGC r.(?) p.(Gly112_Ser113insGlyGlyGlyGlyGlyGly) Unknown - VUS g.53619494_53619495insCGCCGCCGCCGCCGCCGC - DDHD1(NM_001160148.1):c.336_337insGGCGGCGGCGGCGGCGGC (p.G112_S113insGGGGGG), DDHD1(NM_001160148.2):c.336_337insGGCGGCGGCGGCGGCGGC (p.(Gly112_Ser1...)) - DDHD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336_337insGGCGGT r.(?) p.(Gly111_Gly112dup) Unknown - likely benign g.53619480_53619481insACCGCC - DDHD1(NM_001160147.2):c.336_337insGGCGGT (p.G111_G112dup) - DDHD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354C>T r.(?) p.(His118=) Unknown - benign g.53619463G>A g.53152745G>A DDHD1(NM_001160148.2):c.354C>T (p.H118=) - DDHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354C>T r.(?) p.(His118=) Unknown - benign g.53619463G>A g.53152745G>A DDHD1(NM_001160148.2):c.354C>T (p.H118=) - DDHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429G>A r.(?) p.(Arg143=) Unknown - likely benign g.53619388C>T - DDHD1(NM_001160148.1):c.429G>A (p.R143=) - DDHD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>G r.(?) p.(Leu197Val) Unknown - VUS g.53619228G>C g.53152510G>C - - DDHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839-7T>A r.(=) p.(=) Unknown - likely benign g.53570581A>T - DDHD1(NM_001160148.1):c.839-7T>A - DDHD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.941A>G r.(?) p.(Asn314Ser) Unknown - likely benign g.53570472T>C - DDHD1(NM_001160148.1):c.941A>G (p.N314S) - DDHD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948T>C r.(?) p.(Phe316=) Unknown - likely benign g.53570465A>G g.53103747A>G DDHD1(NM_001160148.1):c.948T>C (p.F316=) - DDHD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>C r.(?) p.(Asp326His) Unknown - VUS g.53570437C>G - DDHD1(NM_001160148.1):c.976G>C (p.D326H) - DDHD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1015A>G r.(?) p.(Ser339Gly) Unknown - likely benign g.53569767T>C g.53103049T>C DDHD1(NM_001160147.1):c.1015A>G (p.S339G) - DDHD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130G>C r.(?) p.(Arg377Thr) Unknown - VUS g.53560066C>G g.53093348C>G DDHD1(NM_001160148.2):c.1109G>C (p.R370T) - DDHD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140C>T r.(?) p.(Thr380=) Unknown - likely benign g.53560056G>A g.53093338G>A DDHD1(NM_001160148.1):c.1119C>T (p.T373=) - DDHD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1212A>G r.(?) p.(Thr404=) Unknown - likely benign g.53558601T>C g.53091883T>C DDHD1(NM_001160148.1):c.1191A>G (p.T397=) - DDHD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1524+10A>T r.(=) p.(=) Unknown - likely benign g.53539305T>A g.53072587T>A DDHD1(NM_001160148.1):c.1503+10A>T, DDHD1(NM_001160148.2):c.1503+10A>T - DDHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1524+10A>T r.(=) p.(=) Unknown - likely benign g.53539305T>A - DDHD1(NM_001160148.1):c.1503+10A>T, DDHD1(NM_001160148.2):c.1503+10A>T - DDHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1525C>G r.(?) p.(Leu509Val) Unknown - VUS g.53529923G>C g.53063205G>C DDHD1(NM_001160148.1):c.1504C>G (p.L502V) - DDHD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545A>G r.(?) p.(Gln515=) Unknown - likely benign g.53529903T>C g.53063185T>C DDHD1(NM_001160148.1):c.1524A>G (p.Q508=) - DDHD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1550T>C r.(?) p.(Leu517Pro) Unknown - VUS g.53529898A>G - DDHD1(NM_001160148.2):c.1529T>C (p.(Leu510Pro)) - DDHD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1779T>A r.(?) p.(Thr593=) Unknown - benign g.53529669A>T g.53062951A>T DDHD1(NM_001160148.2):c.1758T>A (p.T586=) - DDHD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1779T>A r.(?) p.(Thr593=) Unknown - benign g.53529669A>T g.53062951A>T DDHD1(NM_001160148.2):c.1758T>A (p.T586=) - DDHD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781A>C r.(?) p.(Lys594Thr) Unknown - likely benign g.53529667T>G g.53062949T>G DDHD1(NM_001160147.1):c.1781A>C (p.(Lys594Thr)) - DDHD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1916G>A r.(?) p.(Arg639His) Unknown - VUS g.53525292C>T - DDHD1(NM_001160148.1):c.1895G>A (p.R632H) - DDHD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1969A>G r.(?) p.(Ile657Val) Unknown - VUS g.53525239T>C - DDHD1(NM_001160148.1):c.1948A>G (p.I650V) - DDHD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2218C>T r.(?) p.(Arg740Ter) Unknown - pathogenic g.53522426G>A g.53055708G>A DDHD1(NM_001160148.2):c.2197C>T (p.R733*) - DDHD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2264T>G r.(?) p.(Leu755Ter) Unknown - pathogenic g.53522380A>C g.53055662A>C - - DDHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2458+2517G>T r.(=) p.(=) Unknown - VUS g.53518639C>A - DDHD1(NM_001160148.1):c.2444G>T (p.R815I) - DDHD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2466G>T r.(?) p.(Leu822Phe) Unknown - VUS g.53513660C>A - DDHD1(NM_001160148.2):c.2529G>T (p.(Leu843Phe)) - DDHD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2466_2467delinsT r.(?) p.(Leu822Phefs*39) Unknown - VUS g.53513659_53513660delinsA - DDHD1(NM_001160148.2):c.2529_2530delinsT (p.(Leu843Phefs*39)) - DDHD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2467del r.(?) p.(Asp823Ilefs*38) Unknown - VUS g.53513660del - DDHD1(NM_001160148.2):c.2530del (p.(Asp844Ilefs*38)) - DDHD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6_*7del r.(=) p.(=) Unknown - benign g.53513483_53513484del g.53046765_53046766del DDHD1(NM_001160148.2):c.*6_*7delCT - DDHD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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