Variant #0000818142 (NC_000015.9:g.89861596_89870890del, NC_000015.9(NM_002693.2):c.1251-310_3482+176del (POLG))

Individual ID 00384650
Chromosome 15
Allele Unknown
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.89861596_89870890del
DNA change (hg38) g.89318365_89327659del
Published as hg38 89,861,596-89,870,890del
ISCN -
DB-ID POLG_000229
Variant remarks 9223-bp deletion exon 7-21
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-01 16:51:17 +01:00 (CET)
Date last edited 2021-11-01 16:57:33 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POLG NM_002693.2 +/. 6i_ c.1251-310_3482+176del r.(?) p.(Pro419_Cys1162del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389169 DNA SEQ;SEQ-NG-I peripheral blood WES - 2 Giovanna Aschettino


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