Variant #0000150061 (NC_000007.13:g.75583457G>C, NM_000941.2:c.147G>C (POR))

Individual ID 00091725
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.75583457G>C
DNA change (hg38) g.75954139G>C
Published as 147G>C
ISCN -
DB-ID POR_000073 See all 2 reported entries
Variant remarks reference haplotype POR*25
Reference Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee
ClinVar ID -
dbSNP ID rs56355228
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Sarah C Sim
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 2016-12-17 11:43:33 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
POR NM_000941.2 ?/. 2 c.147G>C POR*25 r.(?) p.(Lys49Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091867 DNA SEQ - - POR 1 Julia Lopez


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