Variant #0000535310 (NC_000008.10:g.72211364C>T, EYA1(NM_000503.4):c.744G>A)

Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72211364C>T
DNA change (hg38) g.71299129C>T
Published as EYA1(NM_000503.5):c.744G>A (p.T248=)
ISCN -
DB-ID EYA1_000053
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0012 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 -/. - c.744G>A r.(?) p.(Thr248=)