Variant #0000670020 (NC_000008.10:g.72211326G>A, EYA1(NM_000503.4):c.782C>T)

Individual ID 00305203
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72211326G>A
DNA change (hg38) g.71299091G>A
Published as -
ISCN -
DB-ID EYA1_000051 See all 3 reported entries
Variant remarks 2 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs77825059
Origin Germline
Segregation -
Frequency 2/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00205 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 -?/. - c.782C>T r.(?) p.(Pro261Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306332 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq