Variant #0000730126 (NC_000006.11:g.35471521dup, NM_003322.3:c.1217dup (TULP1))

Individual ID 00331619
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35471521dup
DNA change (hg38) g.35503744dup
Published as c.1217dupT
ISCN -
DB-ID TULP1_000109
Variant remarks -
Reference PubMed: Sun 2018
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 2021-02-12 13:51:13 +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     
TULP1 NM_003322.3 +/. - c.1217dup r.(?) p.(Ile407Aspfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332838 DNA SEQ-NG - - PCDH15, TULP1 6 LOVD


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