Variant #0001036530 (NC_000007.13:g.75610480G>A, NM_000941.2:c.631G>A (POR))

Chromosome 7
Allele Unknown
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.75610480G>A
DNA change (hg38) -
Published as POR(NM_001382655.1):c.685G>A (p.(Asp229Asn))
ISCN -
DB-ID POR_000067 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
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 ?/. - c.631G>A - r.(?) p.(Asp211Asn)
TMEM120A NM_031925.2 ?/. - c.*6010C>T - r.(=) p.(=)


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