Genomic variant #0000329406

Chromosome 3
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.49394921G>C
DNA change (hg38) g.49357488G>C
Published as GPX1(NM_000581.2):c.512C>G (p.(Pro171Arg))
ISCN -
DB-ID GPX1_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPX1 NM_000581.2 ?/. - c.512C>G r.(?) p.?
RHOA NM_001664.2 ?/. - c.*2721C>G r.(=) p.(=)