All transcript variants in gene ALMS1

This database is one of the "Eye disease" gene variant databases and the EURO-WABB
project
, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome
and other rare diabetes syndromes.
Information The variants shown are described using the NM_015120.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T - - - ALMS1_000281 - PubMed: Lazar 2015; Journal: Lazar 2015 - Germline yes - - 0 - Johan den Dunnen
+?/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T - - - ALMS1_000281 - PubMed: Lazar 2015, Journal: Lazar 2015 - Germline - - - 0 - Pieter Klap
./. - c.2033A>G - r.(?) p.(Tyr678Cys) g.73675690A>G - - - ALMS1_000254 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - Johan den Dunnen
./. - c.9776A>C - r.(?) p.(Asp3259Ala) g.73747141A>C - - - ALMS1_000255 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - Johan den Dunnen
+/. 16 c.10945G>T - r.(?) p.(Glu3649*) g.73799952G>T - - - ALMS1_000027 not in 400 control chromosomes PubMed: Wang 2011, Journal: Wang 2011 - Germline yes - - 0 - Xia Wang
+?/. - c.11291C>A ACMG 4 - - g.73800298C>A - - - ALMS1_000256 - Trujillano et al., submitted - Germline - - - 0 - Daniel Trujillano
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