Transcript #00001717 (NM_145014.2, HYLS1 gene)

Transcript name transcript variant 1
Gene name HYLS1 (hydrolethalus syndrome 1)
Chromosome 11
Transcript - NCBI ID NM_145014.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_659451.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2012-09-26 18:12:14 +02:00 (CEST)
Date last edited N/A


Variants

21 entries on 1 page. Showing entries 1 - 21.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-81+11G>A r.(=) p.(=)
-?/. - c.-81+27_-81+28dup r.(=) p.(=)
-?/. - c.-81+28dup r.(=) p.(=)
?/. - c.-80-3453G>A r.(=) p.(=)
+?/. - c.-80-3031T>C r.(=) p.(=)
-?/. - c.-80-2977C>T r.(=) p.(=)
+/. - c.31del r.(?) p.(Trp11Glyfs*46)
?/. - c.55C>T r.(?) p.(Arg19Ter)
?/. - c.55C>T r.(?) p.(Arg19Ter)
-/. - c.91T>C r.(?) p.(Cys31Arg)
-/. - c.273G>T r.(?) p.(Lys91Asn)
-?/. - c.301A>C r.(?) p.(=)
-?/. - c.468A>G r.(?) p.(Leu156=)
-/. - c.468A>G r.(?) p.(Leu156=)
+/+ 05 c.632A>G r.632a>g p.Asp211Gly
?/. - c.725G>A r.(?) p.(Arg242Gln)
?/. - c.827G>A r.(?) p.(Arg276His)
?/. - c.827G>T r.(?) p.(Arg276Leu)
?/. - c.896_898del r.(?) p.(Ser299*)
-?/. - c.*2899T>C r.(=) p.(=)
-?/. - c.*5335A>G r.(=) p.(=)
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