Transcript #00015970

Transcript name transcript variant 1
Gene name PELP1 (proline, glutamate and leucine rich protein 1)
Chromosome 17
Transcript - NCBI ID NM_014389.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_055204.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.75_87del VUS r.(?) p.(His25Glnfs*2)
-?/. - c.2042C>T likely benign r.(?) p.(Thr681Ile)
-?/. - c.2185_2202dup likely benign r.(?) p.(Met739_Pro744dup)
?/. - c.2202_2219del VUS r.(?) p.(Met739_Pro744del)
?/. - c.2218_2219insTTCAGCAGGCCCCATGCC VUS r.(?) p.(Met739_Pro740insLeuGlnGlnAlaProCys)
?/. - c.2835_2837del VUS r.(?) p.(Glu958del)
?/. - c.2931_2933del VUS r.(?) p.(Glu980del)
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