Transcript #00016908

Transcript name peripherin
Gene name PRPH (peripherin)
Chromosome 12
Transcript - NCBI ID NM_006262.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006253.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.26G>A benign r.(?) p.(Arg9Gln)
-?/. - c.26G>A likely benign r.(?) p.(Arg9Gln)
-?/. - c.53G>A likely benign r.(?) p.(Arg18His)
+/. 1 c.104C>G - r.(?) p.(Ser35Trp)
?/. - c.248C>T VUS r.(?) p.(Ala83Val)
-?/. - c.282C>T likely benign r.(=) p.(=)
-?/. - c.506G>T likely benign r.(?) p.(Arg169Leu)
-/. - c.546-6C>T benign r.(=) p.(=)
?/. - c.560C>T VUS r.(?) p.(Thr187Met)
-?/. - c.703-19T>G likely benign r.(=) p.(=)
-?/. - c.996+1G>A likely benign r.spl? p.?
-?/. - c.996+1G>A likely benign r.spl? p.?
-?/. - c.996+16C>T likely benign r.(=) p.(=)
-/. - c.1107A>G benign r.(=) p.(=)
-/. - c.1107A>G benign r.(=) p.(=)
-/. - c.1107A>G benign r.(=) p.(=)
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