Variant #0000785557 (NC_000002.11:g.73677310C>G, NM_001378454.1:c.3656C>G (ALMS1))

Individual ID 00373497
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.73677310C>G
DNA change (hg38) g.73450183C>G
Published as 3653C>G
ISCN -
DB-ID ALMS1_000870
Variant remarks -
Reference PubMed: Liu 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-14 19:24:06 +02:00 (CEST)
Date last edited 2024-05-24 21:12:22 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALMS1 NM_001378454.1 +/. - c.3656C>G r.(?) p.(Ser1219Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374732 DNA SEQ-NG - 316-gene panel ALMS1 2 LOVD


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