Full data view for gene KIR3DL1

Information The variants shown are described using the NM_013289.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-3343A>G r.(?) p.(=) Unknown - VUS g.55324613A>G g.54813158A>G KIR2DL4(NM_001080772.1):c.740A>G (p.(Tyr247Cys)), KIR2DL4(NM_001080772.2):c.740A>G (p.Y247C) - KIR2DL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3343A>G r.(?) p.(=) Unknown - likely benign g.55324613A>G g.54813158A>G KIR2DL4(NM_001080772.1):c.740A>G (p.(Tyr247Cys)), KIR2DL4(NM_001080772.2):c.740A>G (p.Y247C) - KIR2DL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3273dup r.(?) p.(=) Unknown - likely benign g.55324683dup g.54813228dup KIR2DL4(NM_001080772.2):c.811dupA (p.M271Nfs*108) - KIR2DL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2810T>G r.(?) p.(=) Unknown - likely benign g.55325146T>G g.54813691T>G KIR2DL4(NM_001080770.1):c.708T>G (p.(Asp236Glu)) - KIR2DL4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2657C>T r.(?) p.(=) Unknown - likely benign g.55325299C>T - KIR2DL4(NM_002255.6):c.866C>T (p.A289V) - KIR2DL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2592_-2591del r.(?) p.(=) Unknown - VUS g.55325364_55325365del g.54813909_54813910del KIR2DL4(NM_001080770.1):c.824_825del (p.?) - KIR2DL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.8T>G r.(?) p.(Leu3Arg) Unknown - VUS g.55327963T>G g.54816508T>G KIR3DL1(NM_001322168.1):c.8T>G (p.L3R) - KIR2DL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236G>T r.(?) p.(Ser79Ile) Unknown - VUS g.55329935G>T - KIR3DL1(NM_013289.2):c.236G>T (p.S79I) - KIR2DL4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - likely benign g.55331299G>A g.54819844G>A KIR3DL1(NM_013289.2):c.487G>A (p.D163N), KIR3DS1(NM_001083539.2):c.487G>A (p.D163N) - KIR3DL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.656-2A>T r.spl? p.? Unknown - VUS g.55333018A>T g.54821563A>T KIR3DL1(NM_013289.2):c.656-2A>T (p.?) - KIR3DL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>G r.(?) p.(Thr290=) Unknown - likely benign g.55333234C>G g.54821779C>G KIR3DL1(NM_001322168.1):c.870C>G (p.T290=) - KIR3DL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1105+2T>C r.spl? p.? Unknown - pathogenic g.55340922T>C g.54829467T>C KIR3DL1(NM_001322168.1):c.1105+2T>C - KIR2DS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1130C>A r.(?) p.(Pro377His) Unknown - likely benign g.55341407C>A g.54829952C>A KIR3DL1(NM_013289.2):c.1130C>A (p.(Pro377His)) - KIR2DS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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