Search unique variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RPL35A database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RPL35A full legend here.

5 entries
entries per page

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms


00	Deletion of a complete allele (I)	-	p.0	-	RPL35_00001	-	Large deletion; haploinsufficiency	-
00	Deletion of a complete allele (II)	-	p.0	-	RPL35_00005	-	Large deletion; haploinsufficiency	-
03	c.82_84delCTT	-	p.Leu28del	-	RPL35_00002	-	Deletion	slippage
03	c.97G>A (Reported 3 times)	-	p.Val33Ile;p.Gly32AlafsX20	-	RPL35_00003	-	Missense mutation;formation of a cryptic splice donor site	transition
04	c.304C>T	-	p.Arg102X	-	RPL35_00004	-	Nonsense mutation; 9 aa C-terminal truncation	CpG

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Legend: [ RPL35A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency of polymorphism. RPL35A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms

Diamond-Blackfan Anemia

ribosomal protein L35a (RPL35A)