Variant #0000675018 (NC_000001.10:g.45793601C>G, NM_032756.2:c.781C>G (HPDL))

Individual ID 00307032
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.45793601C>G
DNA change (hg38) g.45327929C>G
Published as -
ISCN -
DB-ID HPDL_000019 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 2020-07-28 10:59:00 +02:00 (CEST)
Date last edited 2020-07-29 09:07:18 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPDL NM_032756.2 +/. 1 c.781C>G r.(?) p.(Leu261Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308173 DNA SEQ;SEQ-NG blood WES - 2 Wenjuan Qiu


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