Variant #0000819986 (NC_000002.11:g.73675279T>A, NM_001378454.1:c.1625T>A (ALMS1))

Individual ID 00389398
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73675279T>A
DNA change (hg38) g.73448152T>A
Published as ALMS1, variant 1: c.1628T>A/p.L543*, variant 2: c.10149dup/p.S3384Qfs*7
ISCN -
DB-ID ALMS1_000777
Variant remarks solved, compound heterozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-08 10:11:04 +01:00 (CET)
Date last edited 2024-05-17 17:20:03 +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.1625T>A r.(?) p.(Leu542Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000390641 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper ALMS1 2 LOVD


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