Genomic variant #0000550192

Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32367033C>G
DNA change (hg38) -
Published as RXFP2(NM_001166058.1):c.1522C>G (p.(Arg508Gly))
ISCN -
DB-ID RXFP2_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00077 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RXFP2 NM_130806.3 -?/. - c.1594C>G likely benign r.(?) p.(Arg532Gly)