Variant #0000690553 (NC_000009.11:g.37424907C>T, GRHPR(NM_012203.1):c.149C>T)

Chromosome 9
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.37424907C>T
DNA change (hg38) -
Published as GRHPR(NM_012203.1):c.149C>T (p.A50V)
ISCN -
DB-ID GRHPR_000009
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) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRHPR NM_012203.1 ?/. - c.149C>T r.(?) p.(Ala50Val)