Unique variants in gene PELP1

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

6 entries on 1 page. Showing entries 1 - 6.
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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.4607470_4607482del - PELP1:c.75_87delCGCCCCCTCCCCA (H25Qfs*2) - PELP1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2042C>T likely benign r.(?) p.(Thr681Ile) g.4576394G>A - PELP1:c.2042C>T (T681I) - PELP1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 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.4576217_4576234del - PELP1:NM_001278241.1:c.1611_1628del, NM_014389.2:c.2202_2219del - PELP1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2835_2837del likely benign r.(?) p.(Glu958del) g.4575599_4575601del - PELP1:NM_001278241.1:c.2244_2246del, NM_014389.2:c.2835_2837del - PELP1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2931_2933del VUS r.(?) p.(Glu980del) g.4575503_4575505del - PELP1:NM_001278241.1:c.2340_2342del, NM_014389.2:c.2931_2933del - PELP1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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