Variant #0000803740 (NC_000008.10:g.72211407G>A, EYA1(NM_000503.4):c.701C>T)

Chromosome 8
Allele Unknown
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.72211407G>A
DNA change (hg38) -
Published as EYA1(NM_000503.5):c.701C>T (p.P234L)
ISCN -
DB-ID EYA1_000225
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYA1 NM_000503.4 ?/. - c.701C>T r.(?) p.(Pro234Leu)