Annotation
Position
chr15 : 73660484
Genotype
Gene
Transcript
NM_005477
HGVS DNA code
c.C128T
HGVS protein code
p.P43L
OMIM-ID
Pubmed Links
Author:
Text:
autosomal recessive intellectual disability, ExonicFunc: nonsynonymous SNV, Reliability of NGS data: 5
Created at February 15, 2014 17:32, Last update February 15, 2014 17:32
Voting
Clinical significance
Uncertain
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 0 votes |
| 4 | 0 votes |
| 3 | 3 votes |
| 2 | 0 votes |
| 1 | 0 votes |
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