The RPL26 gene homepage - Global Variome shared LOVD (original) (raw)

The RPL26 gene homepage

General information
Gene symbol RPL26
Gene name ribosomal protein L26
Chromosome 17
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_031989.1
Transcript reference NM_000987.3
Exon/intron information NM_000987.3 exon/intron table
Associated with diseases DBA11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Hanna Gazda
Total number of public variants reported 5
Unique public DNA variants reported 4
Individuals with public variants 4
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created January 06, 2012
Date last updated February 26, 2024
Version RPL26:240226
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000987.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer
Links to other resources
Homepage URL https://www.LOVD.nl/RPL26
HGNC HGNC:10327
Entrez Gene 6154
PubMed articles RPL26
OMIM - Gene 603704
OMIM - Diseases DBA11 (anemia, Diamond-Blackfan, type 11 (DBA-11))
HGMD RPL26
GeneCards RPL26
NIH Genetic Testing Registry RPL26
Orphanet RPL26

Active transcripts

Legend

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Operator Column type Example Matches
Text Arg all entries containing 'Arg'
space Text Arg Ser all entries containing 'Arg' and 'Ser'
| Text Arg|Ser all entries containing 'Arg' or 'Ser'
! Text !fs all entries not containing 'fs'
^ Text ^p.(Arg all entries beginning with 'p.(Arg'
$ Text Ser)$ all entries ending with 'Ser)'
="" Text ="" all entries with this field empty
="" Text ="p.0" all entries exactly matching 'p.0'
!="" Text !="" all entries with this field not empty
!="" Text !="p.0" all entries not exactly matching 'p.0?'
combination Text *|Ter !fs all entries containing '*' or 'Ter' but not containing 'fs'
Date 2020 all entries matching the year 2020
| Date 2020-03|2020-04 all entries matching March or April, 2020
! Date !2020-03 all entries not matching March, 2020
< Date <2020 all entries before the year 2020
<= Date <=2020-06 all entries in or before June, 2020
> Date >2020-06 all entries after June, 2020
>= Date >=2020-06-15 all entries on or after June 15th, 2020
combination Date 2019|2020 <2020-03 all entries in 2019 or 2020, and before March, 2020
Numeric 23 all entries exactly matching 23
| Numeric 23|24 all entries exactly matching 23 or 24
! Numeric !23 all entries not exactly matching 23
< Numeric <23 all entries lower than 23
<= Numeric <=23 all entries lower than, or equal to, 23
> Numeric >23 all entries higher than 23
>= Numeric >=23 all entries higher than, or equal to, 23
combination Numeric >=20 <30 !23 all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example Matches
Asian all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian" all entries containing 'South Asian', but not containing 'South East Asian'

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ID Chr Name NCBI ID NCBI Protein ID DescendingVariants
00018119 17 ribosomal protein L26 NM_000987.3 NP_000978.1 5
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