Variant #0000653087 (NC_000009.11:g.37426584G>A, GRHPR(NM_012203.1):c.337G>A)

Individual ID 00295230
Chromosome 9
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37426584G>A
DNA change (hg38) g.37426587G>A
Published as -
ISCN -
DB-ID GRHPR_000007
Variant remarks 6 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs180177307
Origin Germline
Segregation -
Frequency 6/2766 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRHPR NM_012203.1 +?/. - c.337G>A r.(?) p.(Glu113Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296398 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq