Variant #0000271272 (NC_000008.10:g.72211957T>C, EYA1(NM_000503.4):c.557-2A>G)

Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72211957T>C
DNA change (hg38) g.71299722T>C
Published as EYA1(NM_000503.5):c.557-2A>G
ISCN -
DB-ID EYA1_000012 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 +/. - c.557-2A>G r.spl? p.?