Variant #0000652824 (NC_000023.10:g.153171712_153171718del, AVPR2(NM_000054.4):c.752_758del)

Individual ID 00294967
Chromosome X
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.153171712_153171718del
DNA change (hg38) g.153906258_153906264del
Published as -
ISCN -
DB-ID AVPR2_000062
Variant remarks 4 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs193922118
Origin Germline
Segregation -
Frequency 4/2739 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 +?/. - c.752_758del r.(?) p.(Arg251Glnfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296135 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq