Variant #0000960001 (NC_000011.9:g.64812776dup, NM_005468.2:c.2191dup (NAALADL1))

Individual ID 00448012
Chromosome 11
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.64812776dup
DNA change (hg38) g.65045304dup
Published as 2191dupG
ISCN -
DB-ID NAALADL1_000008
Variant remarks candidate disease gene
Reference PubMed: Carss 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-09 18:12:48 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAALADL1 NM_005468.2 +?/. - c.2191dup r.(?) p.(Ala731GlyfsTer9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000449585 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen


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