Variant #0000652520 (NC_000008.10:g.72246370G>A, EYA1(NM_000503.4):c.164C>T)

Individual ID 00294663
Chromosome 8
Allele Parent #1
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.72246370G>A
DNA change (hg38) g.71334135G>A
Published as -
ISCN -
DB-ID EYA1_000209 See all 3 reported entries
Variant remarks conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs201434219
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00029 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.164C>T r.(?) p.(Thr55Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295831 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq