Unique variants in gene PELP1

Information The variants shown are described using the NM_014389.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.75_87del VUS r.(?) p.(His25Glnfs*2) g.4607482_4607494del - PELP1(NM_014389.2):c.75_87delCGCCCCCTCCCCA (p.H25Qfs*2) - PELP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2042C>T likely benign r.(?) p.(Thr681Ile) g.4576394G>A - PELP1(NM_014389.2):c.2042C>T (p.T681I) - PELP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2185_2202dup likely benign r.(?) p.(Met739_Pro744dup) g.4576234_4576251dup - PELP1:NM_001278241.1:c.1628_1629insTTCAGCAGGCCCCATGCC, NM_014389.2:c.2219_2220insTTCAGCAGGCCCCATGCC - PELP1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2202_2219del VUS r.(?) p.(Met739_Pro744del) g.4576234_4576251del - PELP1(NM_001278241.1):c.1611_1628del (p.(Ala539_Ser544del), p.(Ala736_Ser741del)) - PELP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2218_2219insTTCAGCAGGCCCCATGCC VUS r.(?) p.(Met739_Pro740insLeuGlnGlnAlaProCys) g.4576218_4576219insGCATGGGGCCTGCTGAAG - PELP1(NM_001278241.1):c.1628_1629insTTCAGCAGGCCCCATGCC (p.(Ser538_Pro543dup), p.(Ser735_Pro740dup)) - PELP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2835_2837del VUS r.(?) p.(Glu958del) g.4575604_4575606del - PELP1(NM_001278241.1):c.2244_2246del (p.(Glu750del), p.(Glu947del)) - PELP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2931_2933del VUS r.(?) p.(Glu980del) g.4575508_4575510del - PELP1(NM_001278241.1):c.2340_2342del (p.(Glu782del), p.(Glu979del)) - PELP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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