Variant #0000464527 (NC_000007.13:g.16460768del, ISPD(NM_001101426.3):c.184del)

Individual ID 00222127
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.16460768del
DNA change (hg38) g.16421143del
Published as 184delG
ISCN -
DB-ID ISPD_000029 See all 2 reported entries
Variant remarks no second variant
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Madhuri Hegde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ISPD NM_001101426.3 +/. 1 c.184del r.(?) p.(Val62Serfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000223198 DNA SEQ;SEQ-NG - targeted gene panel - 4 Madhuri Hegde