Full data view for gene PPP1R13L

Information The variants shown are described using the NM_006663.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-4735T>C r.(?) p.(=) Unknown - likely benign g.45912970A>G g.45409712A>G ERCC1(NM_001983.3):c.857T>C (p.F286S) - CD3EAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4689G>C r.(?) p.(=) Unknown - benign g.45912924C>G g.45409666C>G ERCC1(NM_001983.3):c.*9G>C - CD3EAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4682A>G r.(?) p.(=) Unknown - likely benign g.45912917T>C g.45409659T>C ERCC1(NM_001983.3):c.*16A>G - CD3EAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3983T>C r.(?) p.(=) Unknown - likely benign g.45912218A>G g.45408960A>G CD3EAP(NM_012099.1):c.992A>G (p.(Lys331Arg)) - CD3EAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3835T>C r.(?) p.(=) Unknown - benign g.45912070A>G g.45408812A>G ERCC1(NM_001983.3):c.*863T>C - CD3EAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3623C>T r.(?) p.(=) Unknown - likely benign g.45911858G>A - CD3EAP(NM_001297590.1):c.638G>A (p.R213Q) - CD3EAP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476C>T r.(?) p.(Pro159Leu) Unknown - VUS g.45900039G>A g.45396781G>A PPP1R13L(NM_001142502.1):c.476C>T (p.(Pro159Leu)) - PPP1R13L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.695C>A r.(?) p.(Pro232Gln) Unknown - VUS g.45899820G>T g.45396562G>T PPP1R13L(NM_001142502.1):c.695C>A (p.(Pro232Gln)) - PPP1R13L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.860C>T r.(?) p.(Pro287Leu) Unknown - VUS g.45899469G>A - PPP1R13L(NM_006663.4):c.860C>T (p.P287L) - CD3EAP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2082-5C>A r.spl? p.? Unknown - likely benign g.45888991G>T - PPP1R13L(NM_006663.4):c.2082-5C>A - CD3EAP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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