Variant #0000691493 (NC_000013.10:g.32340164T>C, RXFP2(NM_130806.3):c.497T>C)

Chromosome 13
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.32340164T>C
DNA change (hg38) -
Published as RXFP2(NM_130806.4):c.497T>C (p.I166T)
ISCN -
DB-ID RXFP2_000002
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) 0.00015 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RXFP2 NM_130806.3 ?/. - c.497T>C r.(?) p.(Ile166Thr)