Variant #0000150167 (NC_000007.13:g.75610876C>T, NM_000941.2:c.683C>T (POR))

Chromosome 7
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.75610876C>T
DNA change (hg38) g.75981558C>T
Published as -
ISCN -
DB-ID POR_000040 See all 6 reported entries
Variant remarks -
Reference PubMed: GomesĀ 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00246 View details
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 ?/. 7 c.683C>T POR*36 r.(?) p.(Pro228Leu)



Screenings

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