Variant #0000340231 (NC_000020.10:g.5283316G>C, PROKR2(NM_144773.2):c.525C>G)

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5283316G>C
DNA change (hg38) g.5302670G>C
Published as PROKR2(NM_144773.3):c.525C>G (p.A175=)
ISCN -
DB-ID PROKR2_000008 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 0
Methylation -
Average frequency (large NGS studies) 0.11316 View details
Owner VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 -/. - c.525C>G r.(?) p.(Ala175=)