Variant #0000722534 (NC_000009.11:g.37436697G>A, GRHPR(NM_012203.1):c.905G>A)

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.37436697G>A
DNA change (hg38) -
Published as GRHPR(NM_012203.1):c.905G>A (p.R302H)
ISCN -
DB-ID GRHPR_000010
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) 0 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.905G>A r.(?) p.(Arg302His)
ZBTB5 NM_014872.2 ?/. - c.*3818C>T r.(=) p.(=)