Variant #0000394428 (NC_000007.13:g.138665967del, NM_001164665.1:c.52del (KIAA1549))

Individual ID 00173730
Chromosome 7
Allele Unknown
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.138665967del
DNA change (hg38) g.138981221del
Published as -
ISCN -
DB-ID KIAA1549_000051 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Susanne Roosing
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Susanne Roosing
Date created 2018-07-30 16:12:52 +02:00 (CEST)
Date last edited 2020-06-23 14:20:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIAA1549 NM_001164665.1 +?/. 1 c.52del r.(?) p.(Arg18Alafs*64)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174621 DNA SEQ-NG - - - 1 Susanne Roosing


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