Full data view for gene PLEKHM1

Information The variants shown are described using the NM_014798.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

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.466C>T r.(?) p.(Arg156Trp) Unknown - VUS g.43552923G>A g.45475557G>A PLEKHM1(NM_014798.3):c.466C>T (p.R156W) - PLEKHM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616C>T r.(?) p.(Pro206Ser) Unknown - likely benign g.43552773G>A - PLEKHM1(NM_014798.2):c.616C>T (p.(Pro206Ser)) - MIR4315-1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1106A>G r.(?) p.(Asp369Gly) Unknown - likely benign g.43545777T>C g.45468411T>C PLEKHM1(NM_014798.2):c.1106A>G (p.D369G) - PLEKHM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140G>A r.(?) p.(Ala380=) Unknown - likely benign g.43545743C>T - PLEKHM1(NM_014798.2):c.1140G>A (p.A380=) - PLEKHM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1348C>A r.(?) p.(Pro450Thr) Unknown - VUS g.43535766G>T g.45458400G>T PLEKHM1(NM_014798.2):c.1348C>A (p.(Pro450Thr)), PLEKHM1(NM_014798.3):c.1348C>A (p.P450T) - PLEKHM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1348C>A r.(?) p.(Pro450Thr) Unknown - VUS g.43535766G>T g.45458400G>T PLEKHM1(NM_014798.2):c.1348C>A (p.(Pro450Thr)), PLEKHM1(NM_014798.3):c.1348C>A (p.P450T) - PLEKHM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1362A>G r.(?) p.(Gln454=) Unknown - likely benign g.43535752T>C g.45458386T>C PLEKHM1(NM_014798.3):c.1362A>G (p.Q454=) - PLEKHM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1687C>T r.(?) p.(Arg563Cys) Unknown - VUS g.43531531G>A - PLEKHM1(NM_014798.3):c.1687C>T (p.R563C) - PLEKHM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T r.(?) p.(Asn637=) Unknown - likely benign g.43531307G>A - PLEKHM1(NM_014798.2):c.1911C>T (p.N637=) - PLEKHM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2103T>C r.(?) p.(Tyr701=) Unknown - likely benign g.43531115A>G - PLEKHM1(NM_014798.3):c.2103T>C (p.Y701=) - PLEKHM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2404A>C r.(?) p.(Lys802Gln) Unknown - likely benign g.43530814T>G - PLEKHM1(NM_014798.2):c.2404A>C (p.(Lys802Gln)) - PLEKHM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2507G>A r.(?) p.(Arg836Gln) Unknown - likely benign g.43528120C>T g.45450754C>T PLEKHM1(NM_014798.2):c.2507G>A (p.R836Q) - PLEKHM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2531G>C r.(?) p.(Arg844Pro) Unknown - VUS g.43528096C>G g.45450730C>G PLEKHM1(NM_014798.2):c.2531G>C (p.R844P) - PLEKHM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2638C>T r.(?) p.(Arg880Cys) Unknown - VUS g.43527989G>A g.45450623G>A PLEKHM1(NM_014798.2):c.2638C>T (p.R880C) - PLEKHM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2705A>T r.(?) p.(Gln902Leu) Unknown - likely benign g.43522968T>A g.45445602T>A PLEKHM1(NM_014798.2):c.2705A>T (p.Q902L) - PLEKHM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2901G>T r.(?) p.(Gln967His) Unknown - VUS g.43517529C>A g.45440163C>A PLEKHM1(NM_014798.2):c.2901G>T (p.Q967H) - PLEKHM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2914G>A r.(?) p.(Val972Met) Unknown - likely benign g.43516988C>T - PLEKHM1(NM_014798.2):c.2914G>A (p.V972M) - PLEKHM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3060G>A r.(?) p.(Arg1020=) Unknown - likely benign g.43515335C>T g.45437969C>T PLEKHM1(NM_014798.2):c.3060G>A (p.(=)) - PLEKHM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3168C>T r.(?) p.(Ala1056=) Unknown - likely benign g.43515227G>A g.45437861G>A PLEKHM1(NM_014798.2):c.3168C>T (p.A1056=), PLEKHM1(NM_014798.3):c.3168C>T (p.A1056=) - PLEKHM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3168C>T r.(?) p.(Ala1056=) Unknown - likely benign g.43515227G>A g.45437861G>A PLEKHM1(NM_014798.2):c.3168C>T (p.A1056=), PLEKHM1(NM_014798.3):c.3168C>T (p.A1056=) - PLEKHM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query