Transcript #00001717

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 -


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.91T>C benign r.(?) p.(Cys31Arg)
+/+ 05 c.632A>G - r.632a>g p.Asp211Gly
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