Transcript #00023956

Transcript name transcript variant 1
Gene name HPS4 (Hermansky-Pudlak syndrome 4)
Chromosome 22
Transcript - NCBI ID NM_022081.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_071364.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-806_-786del benign r.(?) p.(=)
+/. 3 c.57delT - r.(?) p.(fs*)
-/. - c.123T>C benign r.(?) p.(=)
-?/. - c.250A>G likely benign r.(?) p.(Ile84Val)
-/. - c.250A>G benign r.(?) p.(Ile84Val)
+/. 6 c.412G>T - r.(?) p.(Gln138*)
?/. - c.445A>G VUS r.(?) p.(Asn149Asp)
+/. 6 c.461A>G - r.(?) p.(His154Arg)
?/. - c.532C>T VUS r.(?) p.(Arg178Cys)
+/. 7 c.541C>T - r.(?) p.(Gln181*)
+/. 7 c.541C>T - r.(?) p.(Gln181*)
+/. 8 c.649C>T - r.(?) p.(Arg217*)
+/. - c.649C>T pathogenic r.(?) p.(Arg217*)
?/. 8 c.664G>T - r.(?) p.(Glu222*)
-/. - c.686A>G benign r.(?) p.(Glu229Gly)
+/. 9i c.706+151C>T - r.(?) p.(=)
-?/. - c.710C>T likely benign r.(?) p.(Ala237Val)
-/. - c.710C>T benign r.(?) p.(Ala237Val)
-/. - c.741T>A benign r.(?) p.(=)
-?/. - c.751A>T likely benign r.(?) p.(Thr251Ser)
+/. - c.839C>G pathogenic r.(?) p.(Ser280*)
-?/. - c.860G>C likely benign r.(?) p.(Gly287Ala)
+/. 11 c.(949_972dup) - r.(?) p.(Ala316_Glu323dup)
-/. - c.1029C>T benign r.(?) p.(=)
-?/. - c.1177C>T likely benign r.(?) p.(Pro393Ser)
-/. - c.1327C>G benign r.(?) p.(Leu443Val)
-/. - c.1356A>C benign r.(?) p.(Gln452His)
-?/. - c.1396C>T likely benign r.(?) p.(Arg466Cys)
?/. - c.1397G>A VUS r.(?) p.(Arg466His)
?/. - c.1516C>G VUS r.(?) p.(Leu506Val)
?/. - c.1527T>G VUS r.(?) p.(Ser509Arg)
-?/. - c.1645A>G likely benign r.(?) p.(Lys549Glu)
-/. - c.1654G>A benign r.(?) p.(Val552Met)
-/. - c.1816C>T benign r.(?) p.(His606Tyr)
-/. - c.1875G>T benign r.(?) p.(Gln625His)
-?/. - c.1883G>A likely benign r.(?) p.(Arg628His)
-/. - c.1883G>A benign r.(?) p.(Arg628His)
-?/. - c.1888C>T likely benign r.(?) p.(Leu630Phe)
+/. 13 c.1891C>T - r.(?) p.(Gln631*)
+/. 13 c.1891C>T - r.(?) p.(Gln631*)
?/. - c.1954A>G VUS r.(?) p.(Arg652Gly)
-/. - c.1955+18G>A benign r.(=) p.(=)
-?/. - c.1959T>C likely benign r.(?) p.(=)
-?/. - c.1966A>T likely benign r.(?) p.(Thr656Ser)
-?/. - c.1993A>T likely benign r.(?) p.(Ile665Phe)
+/. 14 c.2054delC - r.(?) p.(fs*)
?/. 14 c.2054delC - r.(?) p.(fs*)
-?/. - c.2079C>T likely benign r.(?) p.(=)
+/. 14 c.2089_2093dup - r.(?) p.(fs*)
+/. 14 c.2089_2093dup - r.(?) p.(fs*)
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