Variant #0000284971 (NC_000009.11:g.37436755G>A, GRHPR(NM_012203.1):c.963G>A)

Chromosome 9
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.37436755G>A
DNA change (hg38) g.37436758G>A
Published as GRHPR(NM_012203.1):c.963G>A (p.P321=)
ISCN -
DB-ID GRHPR_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00834 View details
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRHPR NM_012203.1 -/. - c.963G>A r.(?) p.(Pro321=)
ZBTB5 NM_014872.2 -/. - c.*3760C>T r.(=) p.(=)