Variant #0000785615 (NC_000001.10:g.45793416_45793419delinsCAGGTGAGGAT, NM_032756.2:c.596_599delinsCAGGTGAGGAT (HPDL))

Individual ID 00373536
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.45793416_45793419delinsCAGGTGAGGAT
DNA change (hg38) g.45327744_45327747delinsCAGGTGAGGAT
Published as -
ISCN -
DB-ID HPDL_000040 See all 2 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 Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2021-05-17 11:22:58 +02:00 (CEST)
Date last edited 2021-05-28 13:26:56 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPDL NM_032756.2 +/. 1 c.596_599delinsCAGGTGAGGAT r.(?) p.(Leu199Profs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374769 DNA SEQ-NG blood WGS HPDL 2 Wenjuan Qiu


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