Variant #0000150129 (NC_000007.13:g.75610390T>G, NM_000941.2:c.541T>G (POR))

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.75610390T>G
DNA change (hg38) g.75981072T>G
Published as -
ISCN -
DB-ID POR_000062 See all 4 reported entries
Variant remarks -
Reference PubMed: ArltĀ 2004
ClinVar ID -
dbSNP ID rs72552771
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2016-12-15 19:35:13 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
POR NM_000941.2 +/. 6 c.541T>G POR*8 r.(?) p.(Tyr181Asp)



Screenings

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